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Disorders of Lipid Metabolism

  • David A. Wenger

Abstract

Most disorders in the metabolism of lipids are the result of defects in enzymes or activator proteins located in lysosomes or peroxisomes. Mutations leading to changes in plasma lipoproteins or lipoprotein receptors can result in changes in the concentration of certain lipids in the blood and tissues. The defects involved in a number of lysosomal storage diseases were discovered in the 1960s, and these initial studies have led to reliable methods for patient and carrier identification and for prenatal diagnosis in at-risk pregnancies. In recent years a large number of clinical variants, patients not fitting the typical phenotype, have been described. This incidates that direct correlation between a measured enzymatic defect and a specific prognosis is not yet possible. The development of technologies to visualize the gene products directly (by the use of specific antibodies to the protein in question) and the genes themselves (by the use of gene probes) will greatly increase our understanding of these diseases. Improvement in the substrates available for testing has also led to methods for the rapid diagnosis of certain variant forms of lipidoses not previously diagnosable. With more awareness on the part of physicians and the public of the implications of genetic factors for health there has been a great increase in the number of requests for diagnostic studies on infants or children with developmental delay or regression. The physician or genetic counselor should know where and how to send samples for biochemical testing so that a definitive diagnosis can be made or a testable genetic disease ruled out.

Keywords

Prenatal Diagnosis Phytanic Acid Fabry Disease Gauche Disease Culture Skin Fibroblast 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Adachi, M., Schneck, L., and Volk, B. W., 1978, Progress in investigations of sphingolipidoses, Acta Neuropathol. (Berl.) 43:1.CrossRefGoogle Scholar
  2. Andrews, J. M., Sorenson, V., Cancilla, P. A., et al., 1971, Late infantile neurovisceral storage disease with curvilinear bodies, Neurology 21:207.PubMedGoogle Scholar
  3. Antonarakis, S. E., Valle, D., Moser, H. W., et al., 1984, Phenotypic variability in siblings with Farber disease, J. Pediatr. 104:406.PubMedCrossRefGoogle Scholar
  4. Arbisser, A. I., Donnelly, K. A., Scott, C. I., et al., 1977, Morquio-like syndrome with beta-galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB, Am. J. Med. Genet. 1:195.PubMedCrossRefGoogle Scholar
  5. Argov, Z., and Navon, R., 1984, Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency, Ann. Neurol. 16:14.PubMedCrossRefGoogle Scholar
  6. Armstrong, D., Dimmitt, S., and VanWormer, D. E., 1974, Studies in Batten disease. I. Peroxidase deficiency in granulocytes, Arch. Neurol. 30:144.PubMedCrossRefGoogle Scholar
  7. Assmann, G., and Fredrickson, D. S., 1983, Acid lipase deficiency: Wolman’s disease and cholesteryl ester storage disease, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 803, McGraw-Hill, New York.Google Scholar
  8. Austin, J. H., 1973a, Studies in metachromatic dystrophy. XI. Therapeutic considerations, Birth Defects Orig. Artic Ser. IX(2):125.Google Scholar
  9. Austin, J., 1973b, Studies in metachromatic leukodystrophy. XII. Multiple sulphatase deficiency, Arch. Neurol. 28:258.PubMedCrossRefGoogle Scholar
  10. Austin, J., Armstrong, D., and Shearer, L., 1965, Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: A controlled study of the brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD), Arch. Neurol. 13:593.PubMedCrossRefGoogle Scholar
  11. Austin, J., Armstrong, D., Shearer, L., et al., 1966, Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for sulfatase A deficiency in metachromatic leukodystrophy urine, Arch. Neurol. 14:259.PubMedCrossRefGoogle Scholar
  12. Awasthi, Y. C., Morris, H. H., Schochet, S. S., Jr., et al., 1977, Studies in neuronal ceroid lipofuscinosis: Leukocyte peroxidase deficiency in a patient with neuronal ceroid-lipofuscinosis (Jansky-Bielschowsky type), J. Lab. Clin. Med. 89:770.PubMedGoogle Scholar
  13. Bach, G., Rosenmann, E., Kami, A., et al., 1982, Pseudodeficiency of α-galactosidase A, Clin. Genet. 21:59.PubMedCrossRefGoogle Scholar
  14. Banerjee, A., Burg, J., Conzelmann, E., et al., 1984, Enzyme-linked immunosorbent assay for the ganglioside GM2-activator protein, Hoppe-Seyler’s Z. Physiol. Chem. 365:347.PubMedCrossRefGoogle Scholar
  15. Barranger, J. A., and Brady, R. O. (eds.), 1984, Molecular Basis of Lysosomal Storage Disorders, Academic Press, New York.Google Scholar
  16. Bayever, E., Philippart, M., and Nuwer, M., et al., 1985, Bone-marrow transplantation for metachromatic leucodystrophy, Lancet 2:471.PubMedCrossRefGoogle Scholar
  17. Beaudet, A. L., and Manschreck, A. A., 1982, Metabolism of sphingomyelin by intact cultured fibroblasts: Differentiation of Niemann-Pick disease types A and B, Biochem. Biophys. Res. Commun. 105:14.PubMedCrossRefGoogle Scholar
  18. Beaudet, A. L., Lipson, A. H., Ferry, G. D., et al., 1974, Acid lipase in cultured fibroblasts: Cholesterol ester storage disease, J. Lab. Clin. Med. 84:54.PubMedGoogle Scholar
  19. Beaudet, A. L., Ferry, G. D., Nichols, B. L., Jr., et al., 1977, Cholesterol ester storage disease: Clinical, biochemical, and pathological studies, J. Pediatr. 90:910.PubMedCrossRefGoogle Scholar
  20. Beaudet, A. L., Hampton, M. S., Patel, K., et al., 1980, Acidic phospholipases in cultured human fibroblasts: Deficiency of phospholipase C in Niemann-Pick disease, Clin. Chim. Acta 108:403.PubMedCrossRefGoogle Scholar
  21. Becker, K., Goebel, H.-H., Svennerholm, L., et al., 1979, Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis, Eur. J. Pediatr. 132:197.PubMedCrossRefGoogle Scholar
  22. Benke, P. J., Reyes, P. F., and Parker, J. C., 1981, New form of adrenoleukodystrophy, Hum. Genet. 58:204.PubMedCrossRefGoogle Scholar
  23. Beratis, N. G., and Hirschhorn, K., 1975, Serum arylsulfatase A assay, J. Pediatr. 87:669.PubMedGoogle Scholar
  24. Beratis, N. G., Aron, A. M., and Hirschhorn, K., 1973, Metachromatic leukodystrophy: Detection in serum, J. Pediatr. 83:824.PubMedCrossRefGoogle Scholar
  25. Beratis, N. G., Fleisher, L. D., Danesino, C., et al., 1974, Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes, Ann. Hum. Genet. Lond. 38:485.CrossRefGoogle Scholar
  26. Besley, G. T. N., and Bain, A. D., 1976, Krabbe’s globoid cell leukodystrophy, J. Med. Genet. 13:195.PubMedCrossRefGoogle Scholar
  27. Besley, G. T. N., and Bain, A. D., 1978, Use of a chromogenic substrate for the diagnosis of Krabbe’s disease, with special reference to its application in prenatal diagnosis, Clin. Chim. Acta 88:229.PubMedCrossRefGoogle Scholar
  28. Besley, G. T. N., and Gatt, S., 1981, Spectrophotometric and fluorimetric assays of galactocerebrosidase activity, their use in the diagnosis of Krabbe’s disease, Clin. Chim. Acta 110:19.PubMedCrossRefGoogle Scholar
  29. Besley, G. T. N., and Moss, S. E., 1983, Studies on sphingomyelinase and β-glucosidase activities in Niemann-Pick disease variants. Phosphodiesterase activities measured with natural and artificial substrates, Biochim. Biophys. Acta 752:54.PubMedGoogle Scholar
  30. Besley, G. T. N., Broadhead, D. M., Lawlor, E., et al., 1984, Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis, Clin. Genet. 26:195.PubMedCrossRefGoogle Scholar
  31. Beutler, E., Kuhl, W., Trinidad, F., et al., 1971, β-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher’s disease, Am. J. Hum. Genet. 23:62.PubMedGoogle Scholar
  32. Beutler, E., Kuhl, W., Matsumoto, F., et al., 1976, Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher’s and Fabry’s disease, J. Exp. Med. 143:975.PubMedCrossRefGoogle Scholar
  33. Beutler, E., Dale, G. L., Guinto, E., et al., 1977, Enzyme replacement therapy in Gaucher’s disease: Preliminary clinical trial of a new enzyme preparation, Proc. Natl. Acad. Sc. USA 74:4620.CrossRefGoogle Scholar
  34. Bilheimer, D. W., Ho, Y. K., Brown, M. S., et al., 1978, Genetics of the low density lipoprotein receptor: Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia, J. Clin. Invest. 61:678.PubMedCrossRefGoogle Scholar
  35. Bilheimer, D. W., Goldstein, J. L., Gundy, S. M., et al., 1984, Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia, N. Engl. J. Med. 311:1658.PubMedCrossRefGoogle Scholar
  36. Bladon, M. T., and Milunsky, A., 1978, Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease, Clin. Genet. 14:359.PubMedCrossRefGoogle Scholar
  37. Blom, S., and Erikson, A., 1983, Gaucher disease—Norrbottnian type. Neurodevelopmental, neurological and neurophysiological aspects, Eur. J. Pediatr. 140:316.PubMedCrossRefGoogle Scholar
  38. Booth, C. W., Gerbie, A. B., and Nadler, H. L., 1973, Intrauterine diagnosis of GM1 gangliosidosis type 2, Pediatrics 52:396.Google Scholar
  39. Borreson, A.-L., and van der Hagen, C. B., 1973, Metachromatic leukodystrophy. II. Direct determination of arylsulfatase A activity in amniotic fluid, Clin. Genet. 4:442.CrossRefGoogle Scholar
  40. Brady, R. O., 1983, Sphingomyelin lipidoses: Niemann-Pick disease, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 831, McGraw-Hill, New York.Google Scholar
  41. Brady, R. O., 1984, Enzyme replacement in the sphingolipidoses, in: Molecular Basis of Lysosomal Storage Disorders (J. A. Barranger and R. O. Brady, eds.), p. 461, Academic Press, New York.Google Scholar
  42. Brady, R. O., and Barranger, J. A., 1983, Glucosylceramide lipidosis: Gaucher’s disease, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 842, McGraw-Hill, New York.Google Scholar
  43. Brady, R. O., Kanfer, J. N., and Shapiro, D., 1965, Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher’s disease, Biochem. Biophys, Res. Commun. 18:221.CrossRefGoogle Scholar
  44. Brady, R. O., Kanfer, J. N., Bradley, R. M., et al., 1966a, Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher’s disease, J. Clin. Invest. 45:1112.PubMedCrossRefGoogle Scholar
  45. Brady, R. O., Kanfer, J. N., Mock, M. B., et al., 1966b, The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease, Proc. Natl. Acad. Sci. USA 55:366.PubMedCrossRefGoogle Scholar
  46. Brady, R. O., Gal, A. E., Bradley, R. M., et al., 1967, Enzymatic defect in Fabry’s disease: Ceramide trihexosidase deficiency, N. Engl. J. Med. 276:1163.PubMedCrossRefGoogle Scholar
  47. Brady, R. O., Uhlendorf, B.W., and Jacobson, C. B., 1971, Fabry’s disease: Antenatal detection, Science 172:174.PubMedCrossRefGoogle Scholar
  48. Brady, R. O., Tallman, J. F., Johnson, W. G., et al., 1973, Replacement therapy for inherited enzyme deficiency: Use of purified ceramidetrihexosidase in Fabry’s disease, N. Engl. J. Med. 289:9.PubMedCrossRefGoogle Scholar
  49. Brady, R. O., Pentchev, P. G., Gal, A. E., et al., 1974, Replacement therapy for inherited enzyme deficiency: Use of purified glucocerebrosidase in Gaucher’s disease, N. Engl. J. Med. 291:989.PubMedCrossRefGoogle Scholar
  50. Brett, E. M., Ellis, R. B., Haas, L., et al., 1973, Late onset GM2-gangliosiodosis: Clinical, pathological, and biochemical studies on 8 patients, Arch. Dis. Child. 48:775.PubMedCrossRefGoogle Scholar
  51. Brown, M. S., and Goldstein, J. L., 1974a, Expression of the familial hypercholesterolemia gene in heterozygotes: Mechanism for a dominant disorder in man, Science 185:61.PubMedCrossRefGoogle Scholar
  52. Brown, M. S., and Goldstein, J. L., 1974b, Familial hypercholesterolemia: Defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity, Proc. Natl. Acad. Sci. USA 71:788.PubMedCrossRefGoogle Scholar
  53. Brown, M. S., and Goldstein, J. L., 1975, Regulation of the activity of the low density lipoprotein receptor in human fibroblasts, Cell. 6:307.PubMedCrossRefGoogle Scholar
  54. Brown, M. S., and Goldstein, J. L., 1976, Receptor-mediated control of cholesterol metabolism, Science 191:150.PubMedCrossRefGoogle Scholar
  55. Brown, M. S., Dana, S. E., and Goldstein, J. L., 1975a, Receptor-dependent hydrolysis of cholesteryl esters contained in plasma low density lipoprotein, Proc. Natl. Acad. Sci. USA 72:2925.PubMedCrossRefGoogle Scholar
  56. Brown, M. S., Faust, J. R., and Goldstein, J. L., 1975b, Role of the low density lipoprotein receptor in regulating the content of free and esterified cholesterol in human fibroblasts, J. Clin. Invest. 55:783.PubMedCrossRefGoogle Scholar
  57. Brown, M. S., Goldstein, J. L., Vanderberghe, K., et al., 1978, Prenatal diagnosis of homozygous familial hypercholesterolaemia: Expression of a genetic receptor disease in utero, Lancet 1:526.PubMedCrossRefGoogle Scholar
  58. Burda, C. D., and Winder, P. R., 1967, Angiokeratoma corporis diffusum universale (Fabry’s disease) in female subjects, Am. J. Med. 42:293.PubMedCrossRefGoogle Scholar
  59. Burke, J. A., and Schubert, W. K., 1972, Deficient activity of hepatic acid lipase in cholesterol ester storage disease, Science 176:309.PubMedCrossRefGoogle Scholar
  60. Burton, B. K., and Reed, S. P., 1981, Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease, Am. J. Hum. Genet. 33:203.PubMedGoogle Scholar
  61. Burton, B. K., Emery, D., and Mueller, H. W., 1980, Lysosomal acid lipase in cultivated fibroblasts: Characterization of enzyme activity in normal and enzymatically deficient cell lines, Clin. Chim. Acta 101:25.PubMedCrossRefGoogle Scholar
  62. Burton, B. K., Remy, W. T., and Rayman, L., 1984, Cholesterol ester and triglyceride metabolism in intact fibroblasts from patients with Wolman’s disease and cholesterol ester storage disease, Pediatr. Res. 18:1242.PubMedCrossRefGoogle Scholar
  63. Butterworth, J., Sutherland, G. R., Guy, G. J., et al., 1976, Lysosomal enzyme levels in human amniotic fluid cells in tissue culture. IV. %A N-acetyl-β-d-glucosaminidase, Clin. Genet. 9:505.PubMedCrossRefGoogle Scholar
  64. Butterworth, J., Broadhead, D. M., and Keay, A. J., 1978, Low arylsulfatase A activity in a family without metachromatic leukodystrophy, Clin. Genet. 14:213.PubMedCrossRefGoogle Scholar
  65. Cable, W. J. L., McCluer, R. H., Kolodny, E. H., et al., 1982, Fabry disease: Detection of heterozygotes by examintion of glycolipids in urinary sediment, Neurology 32:1139.PubMedGoogle Scholar
  66. Callahan, J. W., and Khalil, M., 1975, Sphingomyelinases in human tissues. III, Expression of Niemann-Pick disease in cultured skin fibroblasts, Pediatr. Res. 9:914.PubMedGoogle Scholar
  67. Callahan, J. W., and Lowden, J. A., (eds.), 1981, Lysosomes and Lysosomal Storage Diseases, Raven Press, New York.Google Scholar
  68. Callahan, J. W., Pinsky, L., and Wolfe, L. S., 1970, GM1 gangliosidosis (type II): Studies on a fibroblast cell strain, Biochem. Med. 4:295.PubMedCrossRefGoogle Scholar
  69. Callahan, J. W., Khalil, M., and Gerrie, J., 1974, Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease type C., Biochem. Biophys. Res. Commun. 58:384.CrossRefGoogle Scholar
  70. Callahan, J. W., Kahlil, M., and Philippart, M., 1975, Sphingomyelinases in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C., Pediatr. Res. 9:908.PubMedGoogle Scholar
  71. Carey, W. F., Hopwood, J. J., Poulos, A., et al., 1984, Prenatal diagnosis of lysosomal storage diseases. Review of experience in 145 patient referrals over a period of eight years, Med. J. Aust. 140:203.PubMedGoogle Scholar
  72. Carmody, P. J., Rattazzi, M. C., and Davidson, R. G., 1973, Tay-Sachs disease. The use of tears for the detection of heterozygotes, N. Engl. J. Med. 289:1072.PubMedCrossRefGoogle Scholar
  73. Chang, P. L., and Davidson, R. G., 1980, Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts, Proc. Natl. Acad. Sci. USA 77:6166.PubMedCrossRefGoogle Scholar
  74. Chang, P. L., Rosa, N. E., Ballantyne, S. R., et al., 1983, Biochemical variability of arylsulfatases-A, -B and -C in cultured fibroblasts from patients with multiple sulphatase deficiency, J. Inherited Metab. Dis. 6:167.PubMedCrossRefGoogle Scholar
  75. Chang, P. L., Rosa, N. E., Varey, P. A., et al., 1984, Diagnosis of pseudo-arylsulfatase A deficiency with electrophoretic techniques, Pediatr. Res. 18:1042.PubMedGoogle Scholar
  76. Charrow, J., Inui, K., and Wenger, D. A., 1985, Late onset GM2 gangliosidosis: An α-locus genetic compound with near normal hexosaminidase activity, Clin. Genet. 27:78.PubMedCrossRefGoogle Scholar
  77. Chen, W. W., Moser, A. B., and Moser, H. W., 1981, Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts, Arch. Biochem. Biophys. 208:444.PubMedCrossRefGoogle Scholar
  78. Chester, M. A., Hultberg, B., Liedholm, H., et al., 1979, A new N-acetyl-β-D-hexosaminidase disease with late onset of progressive neurological symptoms, Hum. Hered. 29:124.PubMedCrossRefGoogle Scholar
  79. Christomanou, H., 1980, Niemann-Pick disease, type C. Evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation, Hoppe-Seyler’s Z. Physiol. Chem. 361:1489.PubMedCrossRefGoogle Scholar
  80. Christomanou, H., and Cap, C., 1981, Prenatal monitoring for Wolman’s disease in a pregnancy at risk, Hum. Genet. 57:440.PubMedCrossRefGoogle Scholar
  81. Christomanou, H., Cap, C., and Sandhoff, K., 1978, Prenatal diagnosis of Tay-Sachs disease in cell-free amniotic fluid, Klin. Wochenschr. 56:1133.PubMedCrossRefGoogle Scholar
  82. Christomanou, H., Martinius, J., Jaffe, S., et al., 1980, Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses, Hum. Genet. 55:103.PubMedCrossRefGoogle Scholar
  83. Clarke, J. T. R., Guttmann, R. D., Wolfe, L. S., et al., 1972, Enzyme replacement therapy by renal allotransplantation in Fabry’s disease, N. Engl. J. Med. 287:1215.PubMedCrossRefGoogle Scholar
  84. Coates, P. M., Cortner, J. A., Mennuti, M. T., et al., 1978, Prenatal diagnosis of Wolman disease, Am. J. Med. Genet. 2:397.PubMedCrossRefGoogle Scholar
  85. Colley, J. R., Miller, D. L., Hutt, M. S. R., et al., 1958, The renal lesion in angiokeratoma corporis diffusum, Br. Med. J. 1:1266.PubMedCrossRefGoogle Scholar
  86. Colombi, A., Kostyal, A., Bracher, R., et al., 1967, Angiokeratoma corporis diffusum—Fabry’s disease, Helv. Med. Acta 34:67.PubMedGoogle Scholar
  87. Conzelmann, E., and Sandhoff, K., 1978, AB variant of infantile GM2 gangliosidosis: Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2, Proc. Natl. Acad. Sci. USA 75:3979.PubMedCrossRefGoogle Scholar
  88. Couchot, J., Pluot, M, and Schmauch, M.-A., 1974, La mucosulfatidose: Etude de trois cas familiaux, Arch. Fr. Pediatr. 31:775.PubMedGoogle Scholar
  89. Crocker, A. C., 1961, The cerebral defect in Tay-Sachs disease and Niemann-Pick disease, J. Neurochem. 7:69.PubMedCrossRefGoogle Scholar
  90. Crocker, A. C., 1976, Inborn errors of lipid metabolism: Early identification, Clin. Perinatol. 3:99.PubMedGoogle Scholar
  91. Crocker, A. C., and Farber, S., 1958, Niemann-Pick disease: A review of 18 patients, Medicine 37:1.PubMedCrossRefGoogle Scholar
  92. Crocker, A. C., Vawter, G. F., Neuhauser, E. B. D., et al., 1965, Wolman’s disease: Three new patients with a recently described lipidosis, Pediatrics 35:627.PubMedGoogle Scholar
  93. Crome, L., Hanefeld, F., Patrick, D., et al., 1973, Late onset globoid cell leukodystrophy, Brain 96:84.CrossRefGoogle Scholar
  94. Daloze, P., Delvin, E. E., Glorieux, F. H., et al., 1977, Replacement therapy for inherited enzyme deficiency: Liver orthotopic transplantation in Niemann-Pick disease type A, Am. J. Med. Genet. 1:229.PubMedCrossRefGoogle Scholar
  95. Danesino, C., D’Azzo, A., Arico, M., et al., 1984, Non-progressive psychomotor retardation in a child with severe deficiency of arylsulfatase A activity, Clin. Genet. 26:462.PubMedCrossRefGoogle Scholar
  96. Daniels, L. B., Glew, R. H., Radin, N. S., et al., 1980, A revised fluorometric assay for Gaucher’s disease using conduritol-β-epoxide with liver as the source of β-glucosidase, Clin. Chim. Acta 106:155.PubMedCrossRefGoogle Scholar
  97. Datta, N. S., Wilson, G. N., and Hajra, A. K., 1984, Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome, N. Engl. J. Med. 311:1080.PubMedCrossRefGoogle Scholar
  98. Dawson, G., and Oh, J. Y., 1977, Blood glucosylceramide levels in Gaucher’s disease and its distribution amongst lipoprotein fractions, Clin. Chim. Acta 75:149.PubMedCrossRefGoogle Scholar
  99. D’Azzo, A., Hoogeveen, A., Reuser, A. J. J., et al., 1982, Molecular defect in combined βgalactosidase and neuraminidase deficiency in man, Proc. Natl. Acad. Sci. USA 79:4535.PubMedCrossRefGoogle Scholar
  100. DeBaecque, C.M., Suzuki, K., Rapin, I. et al., 1975. GM2 gangliosidosis AB variant. Clinico-pathological study of a case, Acta Neuropathol. (Bed.) 33:207.CrossRefGoogle Scholar
  101. Desnick, R. J., and Sweeley, C. C., 1983, Fabry’s disease: α-Galactosidase deficiency, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 907, McGraw-Hill, New York.Google Scholar
  102. Desnick, R. J., Sweeley, C. C., and Krivit, W., 1970, A method for the quantitative determination of the neutral glycosphingolipids in urine sediment, J. Lipid Res. 11:31.PubMedGoogle Scholar
  103. Desnick, R. J., Dawson, G., Desnick, S. J., et al., 1971, Diagnosis of glycosphingolipidoses by urinary sediment analysis, N. Engl. J. Med. 284:739PubMedCrossRefGoogle Scholar
  104. Desnick, R. J., Allen, K. Y., Simmons, R. L., et al., 1972, Correction of enzymatic deficiencies by renal transplantation: Fabry’s disease, Surgery 72:203.PubMedGoogle Scholar
  105. Desnick, R. J., Krivit, W., and Sharp, H. R., 1973a, In utero diagnosis of Sandhoff’s disease, Biochem. Biophys. Res. Commun. 51:20.PubMedCrossRefGoogle Scholar
  106. Desnick, R. J., Raman, M. K., Bendel, R. P., et al., 1973b, Prenatal diagnosis of glycosphingolipidoses: Sandhoff’s and Fabry’s disease, J. Pediatr. 83:149.Google Scholar
  107. Desnick, R. J., Allen, K. Y., Desnick, S. J., et al., 1973c, Enzymatic diagnosis of hemizygotes and heterozygotes. Fabry’s disease, J. Lab. Clin. Med. 81:157.PubMedGoogle Scholar
  108. Desnick, R. J., Dean, K. J., Grabowski, G., et al., 1979, Enzyme therapy in Fabry disease: Differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic α-galactosidase A isozymes, Proc. Natl. Acad. Sci. USA 76:5326.PubMedCrossRefGoogle Scholar
  109. Desnick, R. J., Gatt, S., and Grabowski, G. A. (eds.), 1982, Gaucher Disease: A Century of Delineation and Research, Liss, New York.Google Scholar
  110. Desnick, S. J., Desnick, R. J., Brady, R. O., et al., 1973, Renal transplantation in type II Gaucher’s disease, Birth Defects Orig. Artie. Ser. IX(2):109.Google Scholar
  111. Dinur, T., Grabowski, G. A., Desnick, R. J., et al., 1984, Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity, Anal. Biochem. 136:223.PubMedCrossRefGoogle Scholar
  112. Dolman, C. L., McLeod, P. M., and Chang, E. C., 1980, Lymphocytes and urine in ceroid lipofuscinosis, Arch. Pathol. Lab. Med. 104:487.PubMedGoogle Scholar
  113. Donnai, P., Donnai, D., Harris, R., et al., 1981, Antenatal diagnosis of Niemann-Pick disease in a twin pregnancy, J. Med. Genet. 18:359.PubMedCrossRefGoogle Scholar
  114. Dreyfus, J. C., Poenaru, L., and Svennerholm, L., 1975, Absence of hexosaminidase A and B in a normal adult, N. Engl. J. Med. 292:61.PubMedCrossRefGoogle Scholar
  115. Dreyfus, J. C., Poenaru, L., Vibert, M., et al., 1977, Characterization of a variant of β-hexosaminidase: “Hexosaminidase Paris,” Am. J. Hum. Genet. 29:287.PubMedGoogle Scholar
  116. Dubois, G., Turpin, J. C., and Baumann, N., 1975, Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy, N. Engl. J. Med. 293:302.PubMedGoogle Scholar
  117. Dubois, G., Harzer, K., and Baumann, N., 1977, Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family, Am. J. Hum. Genet. 29:191.PubMedGoogle Scholar
  118. Dubois, G., Turpin, J. C., Georges, M. C., 1980, Arylsulfatases A and B in leukocytes: A comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls, Biomedicine 33:2.PubMedGoogle Scholar
  119. Dulaney, J. T., Milunsky, A., Sidbury, J. B., et al., 1976a, Diagnosis of lipogranulomatosis (Farber’s disease) by use of cultured fibroblasts, J. Pediatr. 89:59.PubMedCrossRefGoogle Scholar
  120. Dulaney, J., Moser, H. W., Sidbury, J., et al., 1976b, The biochemical defect in Farber’s disease, in: Current Trends in Sphingolipidoses and Allied Disorders, Vol. 68 (B. W. Volk and L. Schneck, eds.), p. 403, Plenum Press, New York.Google Scholar
  121. Dunn, H. G., Colman, C. L., Farrell, D. F., et al., 1976, Krabbe’s leukodystrophy without globoid cells, Neurology 26:1035.PubMedGoogle Scholar
  122. Elleder, M., Jirasek, A., and Vlk, J., 1983, Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C., Virchows Arch. Pathol. Anat. 401:35.CrossRefGoogle Scholar
  123. Ellis, R. B., Ikonne, J. U., Patrick, A. D., et al., 1973, Prenatal diagnosis of Tay-Sachs disease, Lancet 1:1144.CrossRefGoogle Scholar
  124. Epstein, C. J., Brady, R. O., Schneider, R. M., et al., 1971, In utero diagnosis of Niemann-Pick disease, Am. J. Hum. Genet. 23:533.PubMedGoogle Scholar
  125. Eto, Y., Rampini, S., Wiesmann, U., et al., 1974, Enzymic studies of sulphatase in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: Arylsulfatases A, B, and C., cerebroside sulphatase, psychosine sulphatase and steroid sulphatases, J. Neurochem. 23:1161.PubMedCrossRefGoogle Scholar
  126. Eto, Y., Numaguchi, S., Tahara, T., et al., 1980, Multiple sulfatase deficiency (Mucosulfatidosis): Impaired degradation of labeled sulfated compounds in cultured skin fibroblasts in vivo, Eur. J. Pediatr. 135:85.PubMedCrossRefGoogle Scholar
  127. Eto, Y., Tahara, T., Koda, N., et al., 1982a, Prenatal diagnosis of metachromatic leukodystrophy. A diagnosis by amniotic fluid and its confirmation, Arch. Neurol. 39:29.PubMedCrossRefGoogle Scholar
  128. Eto, Y., Tokoro, T., Liebaers, L, et al., 1982b, Biochemical characterization of neonatal multiple sulfatase deficient (MSD) disorder cultured skin fibroblasts, Biochem. Biophys. Res. Commun. 106:429.PubMedCrossRefGoogle Scholar
  129. Eto, Y., Kureha, Y., Tada, Y., et al., 1983, Multiple sulfatase deficient disorder, Acta Paediatr. Jpn. 25:17.CrossRefGoogle Scholar
  130. Farrell, D. F., and Sumi, S. M., 1977, Skin punch biopsy in the diagnosis of juvenile neuronal ceroid-lipofuscinosis, Arch. Neurol. 34:39.PubMedCrossRefGoogle Scholar
  131. Fensom, A. H., Benson, P. F., Barbarik, A. W., et al., 1977, Fibroblast phosphodiesterase deficiency in Niemann-Pick disease, Biochem. Biophys. Res. Commun. 74:877.PubMedCrossRefGoogle Scholar
  132. Fensom, A. H., Benson, P. F., Neville, B. R. G., et al., 1979, Prenatal diagnosis of Farber’s disease, Lancet 2:990.PubMedCrossRefGoogle Scholar
  133. Fluharty, A. L., Stevens, R. L., and Kihara, H., 1978a, Cerebroside sulfate hydrolysis by fibroblasts from a metachromatic leukodystrophy parent with deficient arylsulfatase A, J. Pediatr. 92:782.PubMedCrossRefGoogle Scholar
  134. Fluharty, A. L., Stevens, R. L., Davis, L. L., et al., 1978b, Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts, Am. J. Hum. Genet. 30:249.PubMedGoogle Scholar
  135. Fluharty, A. L., Meek, W. E., and Kihara, H., 1983. Pseudo arylsulfatase A deficiency: Evidence for a structurally altered enzyme, Biochem. Biophys. Res. Commun. 112:191.PubMedCrossRefGoogle Scholar
  136. Freeman, S. J., Davidson, D. J., Shankaran, P., et al., 1983, Monocolonal antibodies against human placental sphingomyelinase, Biosci. Rep. 3:545.PubMedCrossRefGoogle Scholar
  137. Flicker, H., O’Brien, J. S., Vassella, F., et al., 1976, Generalized gangliosidosis: Acid β-galactosidase deficiency with early onset, rapid mental deterioration and minimal bone dysplasia, J. Neurol. 213:273.CrossRefGoogle Scholar
  138. Friedland, J., Perle, G., Saifer, A., et al., 1971, Screening for Tay-Sachs disease in utero using amniotic fluid, Proc. Soc. Exp. Biol. Med. 136:1297.PubMedGoogle Scholar
  139. Frisch, A., Baram, D., and Navon, R., 1984, Hexosaminidase A deficient adults: Presence of α-chain precursor in cultured skin fibroblasts, Biochem. Biophys. Res. Commun. 119:101.PubMedCrossRefGoogle Scholar
  140. Fuchs, W., Navon, R., Kaback, M. M., et al., 1983, Tay-Sachs disease: One-step assay of β-N-acetylhex-osamindase in serum with a sulfated chromogenic substrate, Clin. Chim. Acta 133:253.PubMedCrossRefGoogle Scholar
  141. Fujibayashi, S., and Wenger, D. A., 1985, Studies on a sphingolipid activator protein (SAP-2) in fibroblasts from patients with lysosomal storage diseases, including Niemann-Pick disease type C., Clin. Chim. Acta 146:147.PubMedCrossRefGoogle Scholar
  142. Fujibayashi, S., Inui, K., and Wenger, D. A., 1984, Activator protein deficient metachromatic leukodystrophy: Diagnosis in leukocytes using immunologic methods, J. Pediatr. 104:739.PubMedCrossRefGoogle Scholar
  143. Gabreels, F., Lamers, K., Kok, J., et al., 1971, The biochemical differentiation between heterozygote carriers of metachromatic leukodystrophy and normal persons, Neuropaediatrie 2:461.CrossRefGoogle Scholar
  144. Galjaard, H., Niermeijer, M. F., Hahnemann, N., et al., 1974, An example of rapid prenatal diagnosis of Fabry’s disease using microtechniques, Clin. Genet. 5:386.Google Scholar
  145. Gatt, S., Dinur, T., and Barenholz, Y., 1980, A fluorometric determination of sphingomyelinase by use of fluorescent derivatives of sphingomyelin, and its application to diagnosis of Niemann-Pick disease, Clin. Chem. 26:93.PubMedGoogle Scholar
  146. Gautier, J. C., Laudat, P., Rosa, A., et al., 1973, Maladie de Refsum: Test de charge en phytol chez un descendent, Nouv. Presse Med. 2:2029.PubMedGoogle Scholar
  147. Geiger, B., Navon, R., and Arnon, R., 1978, Hexosaminidase A in amniotic fluid of Tay-Sachs fetuses, Clin. Chem. 24:1131.PubMedGoogle Scholar
  148. Ginns, E. I., Brady, R. O., Pirruccello, S., et al., 1982, Mutations of glucocerebrosidase: Discrimination of neurologic and non-neurologic phenotypes of Gaucher disease, Proc. Natl. Acad. Sci. USA 79:5607.PubMedCrossRefGoogle Scholar
  149. Ginns, E. I., Tegelaers, F. P. W., Barneveld, R., et al., 1983, Determination of Gaucher’s disease phenotypes with monoclonal antibody, Clin. Chim. Acta 131:283.PubMedCrossRefGoogle Scholar
  150. Ginns, E. I., Choudary, P. V., Martin, B. M., et al., 1984, Isolation of c DNA clones for human β-glucocerebrosidase using the λgTll expression system, Biochem. Biophys. Res. Commun. 123:574.PubMedCrossRefGoogle Scholar
  151. Glew, R. H., and Peters, S. P. (eds.), 1977, Practical Enzymology of the Sphingolipidoses, Liss, New York.Google Scholar
  152. Goldberg, M. F., Cotlier, E., Fichenscher, L. G., et al., 1971, Macular cherry-red spot, corneal clouding and β-galactosidase deficiency: Clinical biochemical and electron microscopic study of a new autosomal recessive storage disease, Arch. Intern. Med. 128:387.PubMedCrossRefGoogle Scholar
  153. Goldblatt, J., Sacks, S., and Beighton, P., 1978, The orthopedic aspects of Gaucher’s disease, Clin. Orthop. 137:208.PubMedGoogle Scholar
  154. Goldie, W. D., Holtzman, D., and Suzuki, K., 1977, Chronic hexosaminidase A and B deficiency, Ann. Neurol. 2:156.CrossRefGoogle Scholar
  155. Goldman, J. E., Yamanaka, T., Rapin, I., et al., 1980, The AB-variant of GM2 gangliosidosis. Clinical, biochemical and pathological studies of two patients, Acta Neuropathol. (Berl.) 52:189.CrossRefGoogle Scholar
  156. Goldman, J. E., Katz, D., Rapin, I., et al., 1981, Chronic GM, gangliosidosis presenting as dystonia: I. Clinical and pathological features, Ann. Neurol. 9:465.PubMedCrossRefGoogle Scholar
  157. Goldstein, J. L., and Brown, M. S., 1974, Binding and degradation of low density lipoproteins by cultured human fibroblasts: Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia, J. Biol. Chem. 249:5153.PubMedGoogle Scholar
  158. Goldstein, J. L., and Brown, M. S., 1975, Lipoprotein receptors, cholesterol metabolism and atherosclerosis, Arch. Pathol. 99:181.PubMedGoogle Scholar
  159. Goldstein, J. L., and Brown, M. S., 1979, The LDL receptor locus and the genetics of familial hypercholesterolemia, Annu. Rev. Genet. 13:259.PubMedCrossRefGoogle Scholar
  160. Goldstein, J. L., and Brown, M. S., 1983, Familial hypercholesterolemia, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 672, McGraw-Hill, New York.Google Scholar
  161. Goldstein, J. L., Dana, S. E., ad Brown, M. S., 1974a, Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia, Proc. Natl. Acad. Sci. USA 71:4288.PubMedCrossRefGoogle Scholar
  162. Goldstein, J. L., Harrod, M. J. E., and Brown, M. S., 1974b, Homozygous familial hypercholesterolemia: Specificity of the biochemical defect in cultured cells and feasibility of prenatal detection, Am. J. Hum. Genet. 26:199.PubMedGoogle Scholar
  163. Goldstein, J. L., Dana, S. E., Brunschede, G. Y., et al., 1975, Genetic heterogeneity in familial hypercholesterolemia: Evidence for two different mutations affecting functions of low density lipoprotein receptor, Proc. Natl. Acad. Sci. USA 72:1092.PubMedCrossRefGoogle Scholar
  164. Goto, I., Tabira, T., Nawa, A., et al., 1974, Biochemical and genetic studies in two families with Fabry disease, Arch. Neurol. 31:45.PubMedCrossRefGoogle Scholar
  165. Govrin-Yehudain, J., and Bar-Maor, J. A., 1980, Partial splenectomy in Gaucher’s disease, Isr. J. Med. Sci. 16:665.PubMedGoogle Scholar
  166. Grabowski, G. A., Dinur, T., Gatt, S., et al., 1982, Gaucher type 1 (Ashkenazi) disease: A new method for heterozygote detection using a novel fluorescent natural substrate, Clin. Chim. Acta 124:123.PubMedCrossRefGoogle Scholar
  167. Grabowski, G. A., Kruse, J. R., Goldberg, J. D., et al., 1984, First-trimester prenatal diagnosis of Tay-Sachs disease, Am. J. Hum. Genet. 36:1369.PubMedGoogle Scholar
  168. Greene, H. L., Hug, G., and Schubert, W. K., 1969, Metachromatic leukodystrophy: Treatment with arylsulfatase A, Arch. Neurol. 20:147.PubMedCrossRefGoogle Scholar
  169. Griffin, J. W., Goren, E., and Schaumburg, H., 1977, Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. I. Clinical and endocrinological aspects, Neurology 27:1107.PubMedGoogle Scholar
  170. Grimm, T., Wienker, T. F., and Ropers, H. H., 1976, Fabry’s disease: Heterozygote detection by hair root analysis, Hum. Genet. 32:329.PubMedCrossRefGoogle Scholar
  171. Groth, C. G., Hagenfeldt, L., Dreborg, S., et al., 1971, Splenic transplantation in a case of Gaucher’s disease, Lancet 1:1260.PubMedCrossRefGoogle Scholar
  172. Groth, C. G., Collste, H., Dreborg, S., et al., 1979, Attempt at enzyme replacement in Gaucher disease by renal transplantation, Acta Paediatr. Scand. 68:475.PubMedCrossRefGoogle Scholar
  173. Grover, W. D., and Naiman, J. L., 1971, Progressive paresis of vertical gaze in lipid storage disease, Neurology 21:896.PubMedGoogle Scholar
  174. Grover, W. D., Tucker, S. H., and Wenger, D. A., 1978, Clinical variation in two related children with neuronopathic Gaucher’s disease, Ann. Neurol. 3:281.PubMedCrossRefGoogle Scholar
  175. Haas, J. E., Johnson, E. S., and Farrell, D. L., 1982, Neonatal-onset adrenoleukodystrophy in a girl, Ann. Neurol. 12:449.PubMedCrossRefGoogle Scholar
  176. Hagberg, B., 1963a, Clinical symptoms, signs and tests in metachromatic leukodystrophy, in: Brain Lipids and Lipoproteins and the Leukodystrophies (J. Folch-Pi and H. Bauer, eds.), p. 134, Elsevier, Amsterdam.Google Scholar
  177. Hagberg, B., 1963b, The clinical diagnosis of Krabbe’s infantile leukodystrophy, Acta Paediatr. Scand. 52:213.CrossRefGoogle Scholar
  178. Hahn, A. F., Gordon, B. A., Feleki, V., et al., 1982, A variant form of metachromatic leukodystrophy without arylsulfatase deficiency, Ann. Neurol. 12:33.PubMedCrossRefGoogle Scholar
  179. Hammersen, G., Oppermann, H., Blassmann, K., et al., 1979, Oculo-neural involvement in an en-zymatically proven case of Niemann-Pick disease type B, Eur. J. Pediatr. 132:11.CrossRefGoogle Scholar
  180. Hardy, B., Hoffman, J., and Neri, A., 1982, Lymphocyte enzymes in the detection of Niemann-Pick carriers, Biomedicine 36:372.Google Scholar
  181. Harzer, K., 1982, Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease, Clin. Chim. Acta 122:21.PubMedCrossRefGoogle Scholar
  182. Harzer, K., Kahn, V., Stengel-Rutkowski, S., et al., 1975, Prenatale diagnose der metachromaticschen Leukodystrophie, Dtsch. Med. Wochenschr. 100:951.PubMedGoogle Scholar
  183. Hechtman, P., 1977, Characterization of an activating factor required for hydrolysis of GM2 ganglioside catalyzed by hexosaminidase A, Can. J. Biochem. 55:315.PubMedCrossRefGoogle Scholar
  184. Hechtman, P., Gordon, B. A., and Ng Ying Kin, N. M. K., 1982, Deficiency of the hexosaminidase A activator protein in a case of GM2 gangliosidosis; variant AB, Pediatr. Res. 16:217.PubMedCrossRefGoogle Scholar
  185. Herndon, J. H., Jr., Steinberg, D., Uhlendorf, B. W., et al., 1969a, Refsum’s disease: Characterization of the enzyme defect in cell culture, J. Clin. Invest. 48:1017.PubMedCrossRefGoogle Scholar
  186. Herndon, J. H., Steinberg, D., and Uhlendorf, B. W., 1969b, Refsum’s disease: Defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes, N. Engl. J. Med. 281:1034.PubMedCrossRefGoogle Scholar
  187. Hirabayashi, Y., Li, Y.-T., and Li, S.-C., 1983, The protein activator specific for the enzymic hydrolysis of GM2 ganglioside in normal human brain and brains of three types of GM2 gangliosidosis, J. Neu-rochem. 40:168.Google Scholar
  188. Ho, M. W., Beutler, S., Tennant, L., et al., 1972a, Fabry’s disease: Evidence for a physically altered α-galactosidase, Am. J. Hum. Genet. 24:256.PubMedGoogle Scholar
  189. Ho, M. W., Seck, J., Schmidt, D., et al., 1972b, Adult Gaucher’s disease: Kindred studies and demonstration of a deficiency of acid β-glucosidase in cultured fibroblasts, Am. J. Hum. Genet. 24:37.PubMedGoogle Scholar
  190. Holland, P., Hug, G., Schubert, W. K., 1965, Chronic reticuloendothelial cell storage disease, Am. J. Dis. Child. 110:117.PubMedGoogle Scholar
  191. Hooft, C., Vlietinck, R. F., Dacremont, G., et al., 1970, GM1 gangliosidosis type II, Eur. Neurol. 4:1.PubMedCrossRefGoogle Scholar
  192. Hoogeveen, A. T., Verheijen, F. W., and Galjaard, H., 1983, The relation between human lysosomal β-galactosidase and its protective protein, J. Biol. Chem. 258:12143.PubMedGoogle Scholar
  193. Hreidarsson, S. J., Thomas, G. H., Kihara, H., et al., 1983, Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with “pseudo” arylsulfatase A deficiency without metachromatic leukodystrophy, Pediatr. Res. 17:701.PubMedCrossRefGoogle Scholar
  194. Huterer, S., Wherrett, J. R., Poulos, A., et al., 1983, Deficiency of phospholipase C acting on phos-phatidylglycerol in Niemann-Pick disease, Neurology 33:67.PubMedGoogle Scholar
  195. Hutton, D., and Steinberg, D., 1973, Localization of the enzymatic defect in phytanic acid storage disease (Refsum’s disease), Neurology 23:1333.PubMedGoogle Scholar
  196. Igarashi, M., Schaumburg, H. H., Powers, J. M., et al., 1976, Fatty acid abnormality in adrenoleukodystro-phy, J. Neurochem. 26:851.PubMedCrossRefGoogle Scholar
  197. Inui, K., and Wenger, D. A., 1984a, Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-β-D -glucopyranoside for the diagnosis of GM2 gangliosidoses in leukocytes, Clin. Genet. 26:318.PubMedCrossRefGoogle Scholar
  198. Inui, K., and Wenger, D. A., 1984b, Biochemical immunological, and structural studies on a sphingolipid activator protein (SAP-1), Arch. Biochem. Biophys. 233:556.PubMedCrossRefGoogle Scholar
  199. Inui, K., Grebner, E. E., Jackson, L. G., et al., 1983a, Juvenile GM2 gangliosidosis (AMB variant): Inability to activate hexosaminidase A by activator protein, Am. J. Hum. Genet. 35:551.PubMedGoogle Scholar
  200. Inui, K., Emmett, M., and Wenger, D. A., 1983b, Immunological evidence for a deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy, Proc. Natl. Acad. Sci. USA 80:3074.PubMedCrossRefGoogle Scholar
  201. Iwamori, M., and Moser, H. W., 1975, Above-normal urinary excretion of urinary ceramides in Farber’s disease, and characterization of their components by high-performance liquid chromatography, Clin. Chem. 21:725.PubMedGoogle Scholar
  202. Jatzkewitz, H., and Mehl, E., 1969, Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML), J. Neurochem. 16:19.PubMedCrossRefGoogle Scholar
  203. Jatzkewitz, H., and Stinshoff, K., 1973, An activator of cerebroside sulfatase in human normal liver and in cases of congenital metachromatic leukodystrophy, FEBS Lett. 32:129.PubMedCrossRefGoogle Scholar
  204. Jensen, G. E., Clausen, J., Melchior, J. C., et al., 1977, Clinical, social and biochemical studies on Batten’s syndrome, alias Spielmeyer-Vogt or Stengel’s syndrome, Eur. Neurol. 15:203.PubMedCrossRefGoogle Scholar
  205. Johnson, D. L., Del Monte, M. A., Cotlier, E., et al., 1975, Fabry disease: Diagnosis of hemizygotes and heterozygotes by α-galactosidase A activity in tears, Clin. Chim. Acta 63:81.PubMedCrossRefGoogle Scholar
  206. Johnson, W. G., 1981, The clinical spectrum of hexosaminidase deficiency diseases, Neurology 31:1453.PubMedGoogle Scholar
  207. Johnson, W. G., and Chutorian, A. M., 1978, Inheritance of the enzyme defect in a new hexosaminidase deficiency disease, Ann. Neurol. 4:399.PubMedCrossRefGoogle Scholar
  208. Jolly, R. D., and Desnick, R. J., 1979, Inborn errors of lysosomal catabolism—principles of heterozygote detection, Am. J. Med. Genet. 4:293.PubMedCrossRefGoogle Scholar
  209. Jongkind, J. F., Verkerk, A., and Niermeijer, M. F., 1983, Detection of Fabry’s disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting, Clin. Genet. 23:261.PubMedCrossRefGoogle Scholar
  210. Justice, P. M., Wenger, D. A., Naidu, S., et al., 1977, Enzymatic studies of a new variant of GM1 gangliosidosis in an older child, Pediatr. Res. 11:407.CrossRefGoogle Scholar
  211. Kaback, M. M., 1977, Tay-Sachs Disease: Screening and Prevention, Liss, New York.Google Scholar
  212. Kaback, M. M. (ed.), 1981, Genetic Issues in Pediatric and Obstetric Practice, Yearbook Medical Publishers, Chicago.Google Scholar
  213. Kaback, M. M., and Howell, R. R., 1970, Infantile metachromatic leukodystrophy: Homozygote detection in skin fibroblasts and possible applications to intrauterine diagnosis, N. Engl. J. Med. 282:1336.PubMedCrossRefGoogle Scholar
  214. Kaback, M. M., and Zeiger, R. S., 1972, Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the prevention of genetic disorder, in: Sphingolipids, Sphingolipi-doses and Allied Disorders (B.W. Volk and S. M. Aronson, eds.), p. 613, Plenum Press, New York.Google Scholar
  215. Kaback, M. M., Sloan, H. R., Sonneborn, M., et al., 1973, GM1 gangliosidosis type I in utero: Detection and fetal manifestations, J. Pediatr. 82:1037.PubMedCrossRefGoogle Scholar
  216. Kaback, M. M., Zeiger, R. S., Reynolds, L. W., et al., 1974, Approaches to the control and prevention of Tay-Sachs disease, in: Progress in Medical Genetics (A. G. Steinberg and A. G. Bearn, eds.), p. 103, Grune and Stratton, New York.Google Scholar
  217. Kampine, J. P., Brady, R. O., Kanfer, J. N., et al., 1967, Diagnosis of Gaucher’s disease and Niemann-Pick disease with small samples of venous blood, Science 155:86.PubMedCrossRefGoogle Scholar
  218. Kandt, R. S., Emerson, R. G., Singer, H. S., et al., 1982, Cataplexy in variant forms of Niemann-Pick disease, Ann. Neurol. 12:284.PubMedCrossRefGoogle Scholar
  219. Kane, J. P., Malloy, M. J., Tun, P., et al., 1981, Normalization of low-density-lipoprotein levels in heterozygous familial hypercholesterolemia with a combined drug regimen, N. Engl. J. Med. 304:251.PubMedCrossRefGoogle Scholar
  220. Kazy, Z., Rozovsky, I. S., and Bakharev, V. A., 1982, Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders, Prenat. Diagn. 2:39.CrossRefGoogle Scholar
  221. Kelly, T. E., Chase, G. A., Kaback, M. M., et al., 1975, Tay-Sachs disease: High gene frequency in a non-Jewish population, Am. J. Hum. Genet. 27:287.PubMedGoogle Scholar
  222. Kelly, T. E., Reynolds, L. W., and O’Brien, J. S., 1976, Segregation within a family of two mutant alleles for hexosaminidase A, Clin. Genet. 9:540.PubMedCrossRefGoogle Scholar
  223. Kihara, H., 1982, Genetic heterogeneity in metachromatic leukodystrophy, Am. J. Hum. Genet. 34:171.PubMedGoogle Scholar
  224. Kihara, H., Ho, C.-K., Fluharty, A. L., et al., 1980, Prenatal diagnosis of metachromatic leukodystrophy in a family with pseudo arylsulfatase A deficiency by the cerebroside sulfate loading test, Pediatr. Res. 14:224.PubMedCrossRefGoogle Scholar
  225. Kint, J. A., 1970, Fabry’s disease, alpha-galactosidase deficiency, Science 167:1268.PubMedCrossRefGoogle Scholar
  226. Kint, J. A., Dacremont, G., and Vlietinck, R., 1969, Type-II GM1 gangliosidosis? Lancet 2:108.PubMedCrossRefGoogle Scholar
  227. Kleijer, W. J., Van der Veer, E., and Niermeijer, M. F., 1976, Rapid prenatal diagnosis of GM,-gang-liosidosis using microchemical methods, Hum. Genet. 33:299.PubMedCrossRefGoogle Scholar
  228. Kleijer, W. J., Mancini, G. M. S., Jahoda, M. G. J., et al., 1984, First-trimester diagnosis of Krabbe’s disease by direct enzyme analysis of chorionic villi, N. Engl. J. Med. 311:1257.PubMedGoogle Scholar
  229. Kobayashi, T., and Suzuki, K., 1981, Chronic GM1 gangliosidosis presenting as dystonia: II. Biochemical studies, Ann. Neurol. 9:476.PubMedCrossRefGoogle Scholar
  230. Kolodny, E. H., 1976, Current concepts in genetics. Lysosomal storage diseases, N. Engl. J. Med. 294:1217.PubMedCrossRefGoogle Scholar
  231. Kolodny, E. H., and Cable, W. J. L., 1982, Inborn errors of metabolism, Ann. Neurol. 11:221.PubMedCrossRefGoogle Scholar
  232. Kolodny, E. H., and Moser, H. W., 1983, Sulfatide lipidosis: Metachromatic leukodystrophy, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 881, McGraw-Hill, New York.Google Scholar
  233. Kolodny, E. H., and Raghavan, S. S., 1983, GM2-Gangliosidosis. Hexosaminidase mutations not of the Tay-Sachs type produce unusual clinical variants, Trends Neurol. Sci. 6:16.CrossRefGoogle Scholar
  234. Kolodny, E. H., Ullman, M. D., Pyeritz, R. E., et al., 1981, Plasmaphoresis therapy for the lipidoses, in: Lysosomes and Lysosomal Storage Diseases (J. W. Callahan and J. A. Lowden, eds.), p. 395, Raven Press, New York.Google Scholar
  235. Koster, J. F., Niermeijer, M. F., Loonen, M. C. B., et al., 1976, β-Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis, Clin. Genet. 9:427.PubMedCrossRefGoogle Scholar
  236. Kresse, H., and Holtfrerich, D., 1980, Thiosulfate-mediated increase of arylsulfatase activities in multiple sulfatase deficiency disorder fibroblasts, Biochem. Biophys. Res. Commun. 97:41.PubMedCrossRefGoogle Scholar
  237. Kudoh, T., and Wenger, D. A., 1982a, Diagnosis of metachromatic leukodystrophy, Krabbe disease and Farber disease after the uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts, J. Clin. Invest. 70:89.PubMedCrossRefGoogle Scholar
  238. Kudoh, T., and Wenger, D. A., 1982b, Prenatal diagnosis of Krabbe disease: Galactosylceramide metabolism in cultured amniotic fluid cells, J. Pediatr. 101:754.PubMedCrossRefGoogle Scholar
  239. Kudoh, T., Kikuchi, K., Nakamura, F., et al., 1978, Prenatal diagnosis of GM1-gangliosidosis: Biochemical manifestations in fetal tissues, Hum. Genet. 44:287.PubMedCrossRefGoogle Scholar
  240. Kudoh, T., Sattler, M., Malmstrom, J., et al., 1981, Metabolism of fatty acid-labelled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients: Use in the prenatal identification of a false positive fetus, J. Lab. Clin. Med. 98:707.Google Scholar
  241. Kudoh, T., Velkoff, M., and Wenger, D. A., 1983, Uptake and metabolism of radiolabeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases, Biochim. Biophys. Acta 754:82.PubMedGoogle Scholar
  242. Kustermann-Kuhn, B., and Harzer, K., 1983, Prenatal diagnosis of Tay-Sachs disease. Reflectometry of hexosaminidase A, B, and C/S bands on zymograms, Hum. Genet. 65:172.PubMedCrossRefGoogle Scholar
  243. Kyriakides, E. C., Filippone, N., Paul, B., et al., 1970, Lipid studies in Wolman’s disease, Pediatrics 46:431.PubMedGoogle Scholar
  244. Kyriakides, E. C., Paul, B., and Balint, J. A., 1972, Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman’s disease, and their apparent correction in vitro, J. Lab. Clin. Med. 80:810.PubMedGoogle Scholar
  245. Kytzia, H.-J., Hinrichs, U., Maire, L, et al., 1983, Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity, EMBO J. 2:1201.PubMedGoogle Scholar
  246. Kytzia, H.-J., Hinrichs, U., and Sandhoff, K., 1984, Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates, Hum. Genet. 67:414PubMedCrossRefGoogle Scholar
  247. Lane, A. B., Skikne, M. I., and Jenkins, T., 1976, The prenatal diagnosis of Tay-Sachs disease, S. Afr. Med. J. 50:1553.PubMedGoogle Scholar
  248. LeClerc, J. L., Hould, F., Lelievre, M., et al., 1971, Maladie de Wolman: Etude anatom-clinique d’une nouvelle observation avec absence de calcifications et macroscopiques des surrenales, Laval Med. 42:461.PubMedGoogle Scholar
  249. Lehrman, M. A., Schneider, W. J., Sudhof, T. C., et al., 1985, Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains, Science 227:140.PubMedCrossRefGoogle Scholar
  250. Leroy, J. G., Dumon, J., and Radermecker, J., 1970, Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile metachromatic leukodystrophy, Nature 226:553.PubMedCrossRefGoogle Scholar
  251. Leroy, J. G., Van Elsen, A., Martin, J.-J., et al., 1973, Infantile metachromatic leukodystrophy: Confirmation of a prenatal diagnosis, N. Engl. J. Med. 288:1365.PubMedCrossRefGoogle Scholar
  252. Levy, R. I., 1981, Cholesterol, lipoproteins, apoproteins, and heart disease: Present status and future prospects, Clin. Chem. 25:653.Google Scholar
  253. Li, S.-C., Hirabayashi, Y., and Li, Y.-T., 1981a, A protein activator for the enzymic hydrolysis of GM2 ganglioside, J. Biol. Chem. 256:6234.PubMedGoogle Scholar
  254. Li, S.-C., Hirabayashi, Y., and Li, Y.-T., 1981b, A new variant of type-AB GM2-gangliosidosis, Biochem. Biophys. Res. Commun. 101:479.PubMedCrossRefGoogle Scholar
  255. Li, Y.-T., Hirabayashi, Y., and Li, S.-C., 1983a, Differentiation of two variants of type AB-GM2 gangliosidosis using chromogenic substrates, Am. J. Hum. Genet. 35:520.PubMedGoogle Scholar
  256. Li, Y.-T., Muhiudeen, I. A., DeGasgeri, R., et al., 1983b, Presence of activator proteins for the enzymic hydrolysis of GM1 and GM2 gangliosides in normal human urine, Am. J. Hum. Genet. 35:629.PubMedGoogle Scholar
  257. Libert, J., Tondeur, M., and Van Hoof, F., 1976, The use of conjunctival biopsy and enzyme analysis in tears for the diagnosis of homozygotes and heterozygotes with Fabry disease, Birth Defects Orig. Artic. Ser. XII(3):221.Google Scholar
  258. Loonen, M. C. B., Lugt, L. V. D., and Franke, C. L., 1974, Angiokeratoma corporis diffusum and lysosomal enzyme deficiency, Lancet 2:785.PubMedCrossRefGoogle Scholar
  259. Lott, I. T., Dulaney, J. T., Milunsky, A., et al., 1976, Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy, J. Pediatr. 89:438.PubMedCrossRefGoogle Scholar
  260. Lowden, J. A., Cutz, E., Conen, P. E., et al., 1973, Prenatal diagnosis of GM1 gangliosidosis, N. Engl. J. Med. 288:255.CrossRefGoogle Scholar
  261. Lowden, J. A., Ives, E. J., Keene, D. L., et al., 1978, Carrier detection in Sandhoff disease, Am. J. Hum. Genet. 30:38.PubMedGoogle Scholar
  262. Lyon, M. F., 1961, Gene action in the X chromosome of the mouse (Mus musculus L.), Nature 190:372.PubMedCrossRefGoogle Scholar
  263. MacLeod, P. M., Wood, S., Jan, J. E., et al., 1977, Progressive cerebellar ataxia spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease, Neurology 27:571.PubMedGoogle Scholar
  264. MacLeod, P. M., Dolman, C. L., Nickel, R. E., et al., 1984, Prenatal diagnosis of neuronal ceroid lipofuscinosis, N. Engl. J. Med. 310:595.PubMedCrossRefGoogle Scholar
  265. Malone, M. J., 1976, The cerebral lipidoses, Pediatr. Clin. N. Am. 23:303.Google Scholar
  266. Malone, M. J., Szoke, M. C., and Looney, G. L., 1975, Globoid leukodystrophy. I. Clinical and enzymatic studies, Arch. Neurol. 32:606.PubMedCrossRefGoogle Scholar
  267. Malouf, N., Kirkman, H. N., and Buchanan, P. D., 1976, Ultrastructural changes in antenatal Fabry’s disease, Am. J. Pathol. 82:132.Google Scholar
  268. Mapes, C. A., Anderson, R. L., and Sweeley, C. C., 1970a, Galactosylgalactosylglucosylceramide: Galactosyl hydrolase in normal human plasma and its absence in patients with Fabry’s disease, FEBS Lett. 7:180.PubMedCrossRefGoogle Scholar
  269. Mapes, C. A., Anderson, R. L., Sweeley, C. C., et al., 1970b, Enzyme replacement in Fabry’s disease, an inborn error of metabolism, Science 169:987.PubMedCrossRefGoogle Scholar
  270. Markesbery, W. R., Shield, L. K., Egel, R. T., et al., 1976, Late-infantile neuronal ceroid-lipofuscinosis, an ultrastructural study of lymphocyte inclusions, Arch. Neurol. 33:630.PubMedCrossRefGoogle Scholar
  271. Marshall, W. C., Ockenden, B. G., Fosbrooke, A. S., et al., 1969, Wolman’s disease: A rare lipidosis with adrenal calcification, Arch. Dis. Child. 44:331.PubMedCrossRefGoogle Scholar
  272. Martin, J. J., Leroy, J. G., Ceuterick, C., et al., 1981, Fetal Krabbe leukodystrophy. A morphologic study of two cases, Acta Neuropathol. (Berl.) 53:87.CrossRefGoogle Scholar
  273. Matoth, Y., and Fried, K., 1965, Chronic Gaucher’s disease: Clinical observations on 34 patients, Isr. J. Med. Sci. 1:521.PubMedGoogle Scholar
  274. Mayes, J. S., Scheerer, J. B., Sifers, R. N., et al., 1981, Differential assay for lysosomal alpha-galac-tosidases in human tissues and its application to Fabry’s disease, Clin. Chim. Acta 112:247.PubMedCrossRefGoogle Scholar
  275. Maziere, J.-C., Maziere, C., Hosli, P., et al., 1979, Diagnosis of Niemann-Pick disease by analysis of hair-roots, Biomedicine 31:104.PubMedGoogle Scholar
  276. Maziere, J. C., Maziere, C., Mora, L., et al., 1982, In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C., Biochem. Biophys. Res. Commun. 108:1101.PubMedCrossRefGoogle Scholar
  277. Meek, D., Wolfe, L. S., and Andermann, E., 1984, Juvenile progressive dystonia: A new phenotype of GM2 gangliosidosis, Ann. Neurol. 15:348.PubMedCrossRefGoogle Scholar
  278. Mehl, E., and Jatzkewitz, H., 1964, Ein cerebrosidsulfatase aus schwieneniere, Hoppe-Seyler’s Z. Physiol. Chem. 339:260.PubMedCrossRefGoogle Scholar
  279. Miller, J. D., McCluer, R., and Kanfer, J. N., 1973, Gaucher’s disease: Neurologic disorder in adult siblings, Ann. Intern. Med. 78:883.PubMedGoogle Scholar
  280. Milunsky, A., 1973, Prenatal diagnosis of Tay-Sachs disease, Lancet 2:1442.PubMedCrossRefGoogle Scholar
  281. Minami, R., Fujibayashi, S., Tachi, N., et al., 1983, Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency, Clin. Chim. Acta 129:175.PubMedCrossRefGoogle Scholar
  282. Miyake, Y., Tajima, S., Yamamura, T., et al., 1981, Homozygous familial hypercholesterolemia mutant with a defect in internalization of low density lipoprotein, Proc. Natl. Acad. Sci. USA 78:5151.PubMedCrossRefGoogle Scholar
  283. Momoi, T., Sudo, M., Tanioka, K., et al., 1978, Tay-Sachs disease with altered β-hexosaminidase B: A new variant? Pediatr. Res. 12:77.PubMedCrossRefGoogle Scholar
  284. Momoi, T., Kikuchi, K., Shigematsu, Y., et al., 1983, Prenatal diagnosis of Tay-Sachs disease with heat-labile β-hexosaminidase B, Clin. Chim. Acta 133:331.PubMedCrossRefGoogle Scholar
  285. Moser, H. W., and Chen, W. W., 1983, Ceramidase deficiency: Farber’s lipogranulomatosis, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Frederickson, et al., eds.), p. 820, McGraw-Hill, New York.Google Scholar
  286. Moser, H. W., Prensky, A. L., Wolfe, H., et al., 1969, Farber’s lipogranulomatosis: Report of a case and demonstration of an excess of free ceramide and ganglioside, Am. J. Med. 47:869.PubMedCrossRefGoogle Scholar
  287. Moser, H. W., Moser, A. B., Kawamura, N., et al., 1980, Adrenoleukodystrophy: Studies of the phenotype, genetics and biochemistry, Johns Hopkins Med. J. 147:217.PubMedGoogle Scholar
  288. Moser, H. W., Moser, A. B., Powers, J. M., et al., 1982, The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland, Pediatr. Res. 16:172.PubMedCrossRefGoogle Scholar
  289. Moser, H. W., Moser, A. E., Trojak, J. E., et al., 1983, Identification of female carriers of adre-noleukodystrophy, J. Pediatr. 103:54.PubMedCrossRefGoogle Scholar
  290. Moser, H. W., Tutschka, P. J., Brown, III, F. R., et al., 1984, Bone marrow transplant in adrenoleukodys-trophy, Neurology 34:1410.PubMedGoogle Scholar
  291. Mueller, O. T., and Rosenberg, A., 1976, β-Glucoside hydrolase activity of normal and glucosylcera-midotic cultured human skin fibroblasts, J. Biol. Chem. 252:825.Google Scholar
  292. Muller, D., Pilz, H., and Muelen, V. T., 1969, Studies on adult metachromatic leukodystrophy. Part I. Clinical, morphological and histochemical observations in two cases, J. Neurol. Sci. 9:567.PubMedCrossRefGoogle Scholar
  293. Myerowitz, R., and Proia, R. L., 1984, cDNA clone for the α-chain of human β-hexosaminidase: Deficiency of α-chain mRNA in Ashkenazi Tay-Sachs fibroblasts, J. Biol. Chem. 81:5394.Google Scholar
  294. Nakagawa, S., Kumin, S., Sachs, G., et al., 1982, Heterozygote detection of type 1 Gaucher disease using blood platelets, Clin. Chim. Acta 118:99.PubMedCrossRefGoogle Scholar
  295. Navon, R., Padeh, B., and Adam, A., 1973, Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease, Am. J. Hum. Genet. 25:287.PubMedGoogle Scholar
  296. Navon, R., Argov, Z., Brand, N., et al., 1981, Adult GM2 gangliosidosis in association with Tay-Sachs disease: A new phenotype, Neurology 31:1397.PubMedGoogle Scholar
  297. Neufeld, E. F., Lim, T. W., and Shapiro, L. J., 1975, Inherited disorders of lysosomal metabolism, Annu. Rev. Biochem. 44:357.PubMedCrossRefGoogle Scholar
  298. Nguyen, C., Gold, R. J. M., Mahuran, D., et al., 1981, Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-Sachs heterozygotes during pregnancy, Clin. Chim. Acta 113:13.PubMedCrossRefGoogle Scholar
  299. Nilsson, O., Hakansson, G., Dreborg, S., et al., 1982, Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between type I and type III, Clin. Genet. 22:274.PubMedCrossRefGoogle Scholar
  300. Nishimura, R. N., and Barranger, J. A., 1980, Neurologic complications of Gaucher’s disease, type 3, Arch. Neurol. 37:92.PubMedCrossRefGoogle Scholar
  301. Norden, A. G. W., and O’Brien, J. S., 1973, Ganglioside GM1 β-galactosidase: Studies in human liver and brain, Arch. Biochem. Biophys. 159:383.PubMedCrossRefGoogle Scholar
  302. O’Brien, J. S., 1969, Generalized gangliosidosis, J. Pediatr. 75:167.PubMedCrossRefGoogle Scholar
  303. O’Brien, J. S., 1975, Molecular genetics of GM1 β-galactosidase, Clin. Genet. 8:303.PubMedCrossRefGoogle Scholar
  304. O’Brien, J. S., 1977, Pitfalls in the prenatal diagnosis of Tay-Sachs disease, in: Progress in Clinical and Biological Research: Vol. 18: Tay-Sachs Disease Screening and Prevention (M. M. Kaback, ed.), p. 283, Liss, New York.Google Scholar
  305. O’Brien, J. S., 1983, The gangliosidoses, in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 945, McGraw-Hill, New York.Google Scholar
  306. O’Brien, J. S., Stern, M. D., Landing, B. H., et al., 1965, Generalized gangliosidosis: Another inborn error of ganglioside metabolism? Am. J. Dis. Child. 109:338.PubMedGoogle Scholar
  307. O’Brien, J. S., Okada, S., Chen, A., et al., 1970, Tay-Sachs disease: Detection of heterozygotes and homozygotes by serum hexosaminidase assay, N. Engl. J. Med. 283:15.PubMedCrossRefGoogle Scholar
  308. O’Brien, J. S., Okada, S., Fillerup, D. L., et al., 1971, Tay-Sachs disease: Prenatal diagnosis, Science 172:61.PubMedCrossRefGoogle Scholar
  309. O’Brien, J. S., Gugler, E., Giedion, A., et al., 1976, Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and β-galactosidase deficiency, Clin. Genet. 9:495.PubMedCrossRefGoogle Scholar
  310. O’Dowd, B., Mahuran, D., Quan, F., et al., 1984, Isolation of cDNA clones encoding the β subunit of human lysosomal β-hexosaminidase, Am. J. Hum. Genet. 36(Suppl.):149S.Google Scholar
  311. Okada, S., and O’Brien, J. S., 1968, Generalized gangliosidosis: Beta-galactosidase deficiency, Science 160:1002.PubMedCrossRefGoogle Scholar
  312. Okada, S., and O’Brien, J. S., 1969, Tay-Sachs disease: Generalized absence of a beta-D-N-acetylhex-osaminidase component, Science 165:698.PubMedCrossRefGoogle Scholar
  313. Okada, S., Veath, M. L., and O’Brien, J. S., 1970, Juvenile GM2 gangliosidosis: Partial deficiency of hexosaminidase A, J. Pediatr. 77:1063.PubMedCrossRefGoogle Scholar
  314. Okada, S., Veath, M. L., Leroy, J., et al., 1971, Ganglioside GM2 storage disease: Hexosaminidase deficiencies in cultured fibroblasts, Am. J. Hum. Genet. 23:55.PubMedGoogle Scholar
  315. Okada, S., McCrea, M., and O’Brien, J. S., 1972, Sandhoff’s disease (GM2 gangliosidosis type 2): Clinical, chemical and enzyme studies in five patients, Pediatr. Res. 6:606.PubMedGoogle Scholar
  316. Okada, S., Kato, T., Yutaka, T., et al., 1979a, A simple method of lysosomal hydrolase assay in a single somatic cell and its application, Clin. Chim. Acta 96:281.PubMedCrossRefGoogle Scholar
  317. Okada, S., Yutaka, T., Kato, C., et al., 1979b, A case of neuraminidase deficiency associated with a partial β-galactosidase defect, Eur. J. Pediatr. 130:239.PubMedCrossRefGoogle Scholar
  318. Okeda, R., Suzuki, Y., Horiguchi, S., et al., 1979, Fetal globoid cell leukodystrophy in one of twins, Acta Neuropathol. (Berl.) 47:151.CrossRefGoogle Scholar
  319. O’Neill, B. P., Moser, H. W., Saxena, K. M., et al., 1984, Adrenoleukodystrophy: Clinical and biochemical manifestations in carriers, Neurology 34:798.PubMedGoogle Scholar
  320. Oonk, J. G. W., vanderHelm, H. J., and Martin, J. J., 1979, Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters, Neurology 29:380.PubMedGoogle Scholar
  321. Opitz, J. M., ZuRhein, G. M., and Vitale, L., 1969, The Zellweger syndrome (cerebro-hepato-renal syndrome), Birth Defects Orig. Artic. Ser. V(2):144.Google Scholar
  322. Orii, T., Minami, R., Sukegawa, K., et al., 1972, A new type of mucolipidosis with β-galactosidase deficiency and glycopeptiduria, Tohoku J. Exp. Med. 107:303.PubMedCrossRefGoogle Scholar
  323. Orme, R. L. E., 1970, Wolman’s disease: An unusual presentation, Proc. R. Soc. Med. 63:489.PubMedGoogle Scholar
  324. Palo, J., Elovaara, I., Haltia, M., et al., 1982, Infantile neuronal ceroid lipofuscinosis: Isolation of storage material, Neurology 32:1035.PubMedGoogle Scholar
  325. Partin, J. C., and_Schubert, W. K., 1972, The ultrastructure and lipid composition of cultured skin fibroblasts in cholesterol ester storage disease, Pediatr. Res. 6:393.Google Scholar
  326. Patrick, A. D., and Lake, B. D., 1969, Deficiency of an acid lipase in Wolman’s disease, Nature 222:1067.PubMedCrossRefGoogle Scholar
  327. Patrick, A. D., Willcox, P., Stephens, R., et al., 1976, Prenatal diagnosis of Wolman’s disease, J. Med. Genet. 13:49.PubMedCrossRefGoogle Scholar
  328. Patrick, A. D., Young, E., Kleijer, W. J., et al., 1977, Prenatal diagnosis of Niemann-Pick disease type A using chromogenic substrate, Lancet 2:144.PubMedCrossRefGoogle Scholar
  329. Pentchev, P. G., and Barranger, J. A., 1978, Sphingolipidoses: Molecular manifestations and biochemical strategies, J. Lipid Res. 19:401.PubMedGoogle Scholar
  330. Pentchev, P. G., Brady, R. O., Hibbert, S. R., et al., 1977, Purification and properties of sphingomyelinase from human placental tissue, Biochim. Biophys. Acta 488:312.PubMedGoogle Scholar
  331. Pentchev, P. G., Comly, M. E., Kruth, H. S., et al., 1985, A defect in cholesterol esterification in certain patients designated as Niemann-Pick disease Type C., Proc. Natl. Acad. Sci. USA 82:8247.PubMedCrossRefGoogle Scholar
  332. Percy, A. K., and Brady, R. O., 1968, Metachromatic leukodystrophy: Diagnosis with samples of venous blood, Science 161:594.PubMedCrossRefGoogle Scholar
  333. Percy, A. K., Kaback, M. M., and Heradon, R. M., 1977, Metachromatic leukodystrophy: Comparison of early- and late-onset forms, Neurology 27:933.PubMedGoogle Scholar
  334. Pergament, E., Ginsberg, N., Verlinsky, Y., et al., 1983, Prenatal Tay-Sachs diagnosis by chorionic villi sampling, Lancet 2:289.Google Scholar
  335. Philippart, M., Franklin, S. S., and Gordon, A., 1972, Reversal of an inborn sphingolipidosis (Fabry’s disease) by kidney transplantation, Ann. Intern. Med. 77:195.PubMedGoogle Scholar
  336. Pierpont, M. E. M., Wenger, D. A., and Moser, H. W., 1983, Heterogeneity of clinical expression of Farber’s lipogranulomatosis, Am. J. Hum. Genet. 35(Suppl.):111A.Google Scholar
  337. Pilz, H., 1972, Late adult metachromatic leukodystrophy, Arch. Neurol. 27:87.PubMedCrossRefGoogle Scholar
  338. Poenaru, L., Kaplan, L., and Dumez, J., 1984, Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy, Pediatr. Res. 18:1032.PubMedGoogle Scholar
  339. Porter, M. T., Fluharty, A. L., and Kihara, H., 1969, Metachromatic leukodystrophy: Arylsulfatase-A deficiency in skin fibroblast cultures, Proc. Natl. Acad. Sci. USA 62:887.PubMedCrossRefGoogle Scholar
  340. Porter, M. T., Fluharty, A. L., Trammell, J., et al., 1971, A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy, Biochem. Biophys. Res. Commun. 44:660.PubMedCrossRefGoogle Scholar
  341. Potier, M., Boire, G., Dallaire, L., et al., 1977, N-Acetyl-β-hexosaminidase isoenzymes of amniotic fluid and maternal serum: Their relevance to prenatal diagnosis of the GM2 gangliosidoses, Clin. Chim. Acta 76:309.PubMedCrossRefGoogle Scholar
  342. Potter, J. L., Timmons, G. D., Rinehart, L., et al., 1972, An improved method for the determination of leukocyte arylsulfatase A and its application to the diagnosis of metachromatic leukodystrophy in homozygous and heterozygous states, Clin. Chim. Acta 39:518.PubMedCrossRefGoogle Scholar
  343. Poulos, A., 1981, Diagnosis of Refsum’s disease using (1-14C)phytanic acid as substrate, Clin. Genet. 20:241.Google Scholar
  344. Poulos, A., Hudson, N., and Ranieri, E., 1983, Sphingomyelinase in cultured skin fibroblasts from normal and Niemann-Pick type C patients, Clin. Genet. 24:225.PubMedCrossRefGoogle Scholar
  345. Poulos, A., Ranieri, E., Shankaran, P., et al., 1984, Studies on the activation of sphingomyelinase activity in Niemann-Pick disease type A, B, and C fibroblasts: Enzymological differentiation of types A and B, Pediatr. Res. 18:1088.PubMedCrossRefGoogle Scholar
  346. Raghavan, S., Gajewski, A., and Kolodny, E. H., 1977, GM1 Ganglioside β-galactosidase in leukocytes and cultured fibroblasts, Clin. Chim. Acta 81:47.PubMedCrossRefGoogle Scholar
  347. Raghavan, S. S., Gajewski, A., and Kolodny, E. H., 1981, Leukocyte sulfatidase for the reliable diagnosis of metachromatic leukodystrophy, J. Neurochem. 36:724.PubMedCrossRefGoogle Scholar
  348. Rahman, A. N., 1963, The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale), Arch. Ophthamol. 69:708.CrossRefGoogle Scholar
  349. Rapin, I., Suzuki, K., Suzuki, K., et al., 1976, Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship, Arch. Neurol. 33:120.PubMedCrossRefGoogle Scholar
  350. Rappeport, J. M., and Ginns, E. I., 1984, Bone-marrow transplantation in severe Gaucher’s disease, N. Engl. J. Med. 311:84.PubMedCrossRefGoogle Scholar
  351. Rattazzi, M. C., and Davidson, R. G., 1972, Prenatal detection of Tay-Sachs disease, in: Antenatal Diagnosis (A. Dorfman, ed.), p. 208, University of Chicago Press, Chicago.Google Scholar
  352. Rattazzi, M. C., and Davidson, R. G., 1977, Prenatal diagnosis of metachromatic leukodystrophy by electrophoretic and immunologic techniques, Pediatr. Res. 11:1030.Google Scholar
  353. Refsum, S., 1946, Heredopathia atactica polyneuritiformis, Acta Psychiatr. Scand. (Suppl.) 38:9.Google Scholar
  354. Refsum, S., 1981, Heredopathia atactica polyneuritiformis. Phytanic-acid storage disease, Refsum’s disease: A biochemically well-defined disease with a specific dietary treatment, Arch. Neurol. 38:605.PubMedCrossRefGoogle Scholar
  355. Refsum, S., and Eldjarn, L., 1967, Heredopathia atactica polyneuritiformis—An inborn defect in the metabolism of branched-chain fatty acids, in: Future of Neurology (H. G. Bammer, ed.), p. 36, Thieme, Stuttgart.Google Scholar
  356. Robinson, D., and Stirling, J. L., 1968, N-Acetyl-β-glucosaminidases in human spleen, Biochem. J. 107:321.PubMedGoogle Scholar
  357. Romeo, G., and Migeon, B. R., 1970, Genetic inactivation of the α-galactosidase locus in carriers of Fabry’s disease, Science 170:180.PubMedCrossRefGoogle Scholar
  358. Rose, J. S., Grabowski, G. A., Barnett, S. H., et al., 1982, Accelerated skeletal deterioration after splenectomy in Gaucher disease type I disease, Am. J. Roentgenol. 139:1202.Google Scholar
  359. Roy, A. B., 1976, Sulphatases, lysosomes and disease, Aust. J. Exp. Biol. Med. Sci. 54:111.PubMedCrossRefGoogle Scholar
  360. Russell, D. W., Yamamoto, T., Schneider, W. J., et al., 1983, cDNA cloning of the bovine low density lipoprotein receptor: Feedback regulation of a receptor mRNA, Proc. Natl. Acad. Sci. USA 80:7501.PubMedCrossRefGoogle Scholar
  361. Russell, D. W., Schneider, W. J., Yamamoto, T., et al., 1984, Domain map of the LDL receptor: Sequence homology with the epidermal growth factor precursors, Cell 37:577.PubMedCrossRefGoogle Scholar
  362. Rutsaert, J., Tondeur, M., Vamos-Hurwitz, E., et al., 1977, The cellular lesions of Farber’s disease and their experimental reproduction in tissue culture, Lab. Invest. 36:474.PubMedGoogle Scholar
  363. Sack, Jr., G. H., 1980, Clinical diversity in Gaucher’s disease, Johns Hopkins Med. J. 146:166.PubMedGoogle Scholar
  364. Saifer, A., and Rosenthal, A. L., 1973, Rapid test for the detection of Tay-Sachs disease heterozygotes and homozygotes by serum hexosaminidase assay, Clin. Chim. Acta 43:417.PubMedCrossRefGoogle Scholar
  365. Saifer, A., Schneck, L., Perle, G., et al., 1973, Caveats of antenatal diagnosis of Tay-Sachs disease, Am. J. Obstet. Gynecol. 115:553.Google Scholar
  366. Sakiyama, T., Tsuda, M., Owada, M., et al., 1983, Bone marrow transplantation for Niemann-Pick mice, Biochem. Biophys. Res. Commun. 113:605.PubMedCrossRefGoogle Scholar
  367. Sakuraba, H., Suzuki, Y., Akagi, M., et al., 1983, β-Galactosidase-neuraminidase deficiency (galac-tosialidosis): Clinical, pathological and enzymatic studies in a postmortem case, Ann. Neurol. 13:497.PubMedCrossRefGoogle Scholar
  368. Sandhoff, K., and Christomanou, H., 1979, Biochemistry and genetics of gangliosidoses, Hum. Genet. 50:107.PubMedCrossRefGoogle Scholar
  369. Sandhoff, K., and Conzelmann, E., 1979, Activation of lysosomal hydrolysis of complex glycolipids by non-enzymic proteins, Trends Biochem. Sci. 1979:231.CrossRefGoogle Scholar
  370. Sandhoff, K., and Harzer, K., 1973, Total hexosaminidase deficiency in Tay-Sachs disease (variant O), in: Lysosomes and Storage Diseases (H. G. Hers and F. Van Hoof, eds.), p. 345, Academic Press, New York.Google Scholar
  371. Sandhoff, K., Andraea, U., and Jatzkewitz, H., 1968, Deficient hexosoaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs, Life Sci. 7:283.PubMedCrossRefGoogle Scholar
  372. Sandhoff, K., Harzer, K., Wassle, W., et al., 1971, Enzyme alteration and lipid storage in three variants of Tay-Sachs disease, J. Neurochem. 18:2469.PubMedCrossRefGoogle Scholar
  373. Santavuori, P., and Moren, R., 1977, Experience of antioxidant treatment in neuronal ceroid-lipofuscinosis of Spielmeyer-Sjogren type, Neuropaediatrie 8:333.CrossRefGoogle Scholar
  374. Scaravilli, F., and Suzuki, K., 1983, Enzyme replacement in grafted nerve of twitcher mouse, Nature 305:713.PubMedCrossRefGoogle Scholar
  375. Schaub, J., Janka, G. E., Christomanou, H., et al., 1980, Wolman’s disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification, Eur. J. Pediatr. 135:45.PubMedCrossRefGoogle Scholar
  376. Schaumburg, H. H., Powers, J. M., Raine, C. S., et al., 1975, Adrenoleukodystrophy. A clinical and pathological study of 17 cases, Arch. Neurol. 32:577.PubMedCrossRefGoogle Scholar
  377. Schaumburg, H. H., Powers, J. M., Raine, C. S., et al., 1977, Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects, Neurology 27:1114.PubMedGoogle Scholar
  378. Schiff, L., Schubert, W. K., McAdams, A. J., et al., 1968, Hepatic cholesterol ester storage disease, a familial disorder, Am. J. Med. 44:538.PubMedCrossRefGoogle Scholar
  379. Schneck, L., Friedland, J., Valenti, C., et al., 1970, Prenatal diagnosis of Tay-Sachs disease, Lancet 1:582.PubMedCrossRefGoogle Scholar
  380. Schneider, E. L., Ellis, W. G., Brady, R. O., et al., 1972, Infantile (type II) Gaucher’s disease. In utero diagnosis and fetal pathology, J. Pediatr. 81:1134.PubMedCrossRefGoogle Scholar
  381. Schneider, W. J., Beisiegel, U., Goldstein, J. L., et al., 1982, Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight, J. Biol. Chem. 257:2664.PubMedGoogle Scholar
  382. Schutgens, R. B. H., Heymans, H. S. A., Wanders, R. J. A., et al., 1984, Prenatal diagnosis of Zellweger syndrome, Lancet 2:1339.PubMedCrossRefGoogle Scholar
  383. Shapiro, L. J., Aleck, K. A., Kaback, M. M., et al., 1979, Metachromatic leukodystrophy without arylsulfatase A deficiency, Pediatr. Res. 13:1179.PubMedCrossRefGoogle Scholar
  384. Sheth, K. J., Good, T. A., and Murphy, J. V., 1981, Heterozygote detection in Fabry disease utilizing multiple enzyme activities, Am. J. Med. Genet. 10:141.PubMedCrossRefGoogle Scholar
  385. Singer, H. S., Nankervis, G. A., and Schafer, I. A., 1972, Leukocyte beta-galactosidase activity in the diagnosis of generalized GM1 gangliosidosis, Pediatrics 49:352.PubMedGoogle Scholar
  386. Singh, I., Moser, A. E., Moser, H. W., et al., 1984, Adrenoleukodystrophy: Impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts, and amniocytes, Pediatr. Res. 18:286.PubMedCrossRefGoogle Scholar
  387. Singh, J., Tavella, D., and DiFerrante, N., 1975a, Measurements of arylsulfatases A and B in human serum, J. Pediatr. 86:574.PubMedCrossRefGoogle Scholar
  388. Singh, J., Tavella, D., and DiFerrante, N., 1975b, Serum arylsulfatase A assay, J. Pediatr. 87:669.Google Scholar
  389. Sloan, H. R., and Fredrickson, D. S., 1972, Enzyme deficiency in cholesteryl ester storage disease, J. Clin. Invest. 51:1923.PubMedCrossRefGoogle Scholar
  390. Sloan, H. R., Uhlendorf, B. W., Jacobson, C. B., et al., 1969a, β-Galactosidase in the tissue culture derived from human skin and bone marrow: Enzyme defect in GM1 gangliosidosis, Pediatr. Res. 3:532.PubMedCrossRefGoogle Scholar
  391. Sloan, H. R., Uhlendorf, B. W., Kanfer, J. N., et al., 1969b, Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease, Biochem. Biophys. Res. Commun. 34:582.PubMedCrossRefGoogle Scholar
  392. Snyder, R. A., and Brady, R. O., 1969, The use of white cells as a source of diagnostic material for lipid storage diseases, Clin. Chim. Acta 25:331.PubMedCrossRefGoogle Scholar
  393. Soffer, D., Yamanaka, T., Wenger, D. A., et al., 1980, Central nervous system involvement in adult-onset Gaucher’s disease, Acta Neuropathol. 49:1.PubMedCrossRefGoogle Scholar
  394. Spence, M. W., MacKinnon, K. E., Burgess, J. K., et al., 1976, Failure to correct the metabolic defect by renal allotransplantation in Fabry’s disease, Ann. Intern. Med. 84:13.PubMedGoogle Scholar
  395. Spence, M. W., Goldbloom, A. L., Burgess, J. K., et al., 1977, Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease), J. Med. Genet. 14:91.PubMedCrossRefGoogle Scholar
  396. Stanbury, J. B., Wyngaarden, J. B., Fredrickson, D. S., et al. (eds.), 1983, The Metabolic Basis of Inherited Disease, 5th ed., McGraw-Hill, New York.Google Scholar
  397. Steinberg, D., 1983, Phytanic acid storage disease (Refsum’s disease), in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 731, McGraw-Hill, New York.Google Scholar
  398. Steinberg, D., Herndon, J. H., Jr., Uhlendorf, B. W., et al., 1967a, Refsum’s disease: Nature of the enzyme defect, Science 156:1740.PubMedCrossRefGoogle Scholar
  399. Steinberg, D., Mize, C. E., Avigan, J., et al., 1967b, Studies on the metabolic error in Refsum’s disease, J. Clin. Invest. 45:1076.Google Scholar
  400. Stevens, R. L., Fluharty, A. L., Kihara, H., et al., 1981, Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy, Am. J. Hum. Genet. 33:900.PubMedGoogle Scholar
  401. Stevenson, R. E., Taylor, H. A., Jr., and Parks, S. E., 1978, β-Galactosidase deficiency: Prolonged survival in three patients following early central nervous system deterioration, Clin. Genet. 13:305.PubMedCrossRefGoogle Scholar
  402. Sugita, M., Dulaney, J. T., and Moser, H. W., 1972, Ceramidase deficiency in Farber’s disease (lipogranulomatosis), Science 178:1100.PubMedCrossRefGoogle Scholar
  403. Sugita, M., Williams, M., Dulaney, J. T., et al., 1975, Ceramidase and ceramide synthesis in human kidney and cerebellum: Description of a new alkaline ceramidase, Biochim. Biophys. Acta 398:125.PubMedGoogle Scholar
  404. Sun, C. C., Panny, S., Combs, J., et al., 1984, Hydrops fetalis associated with Gaucher disease, Pathol. Res. Pract. 179:101.PubMedCrossRefGoogle Scholar
  405. Suzuki, K., and Suzuki, K., 1983, The twitcher mouse. A model of human globoid cell leukodystrophy (Krabbe’s disease), Am. J. Pathol. 111:394.PubMedGoogle Scholar
  406. Suzuki, K., and Suzuki, Y., 1970, Globoid cell leukodystrophy (Krabbe’s disease): Deficiency of galac-tocerebroside β-galactosidase, Proc. Natl. Acad. Sci. USA 66:302.PubMedCrossRefGoogle Scholar
  407. Suzuki, K., and Suzuki, Y., 1983, Galactosylceramide lipidosis: Globoid cell leukodystrophy (Krabbe’s disease), in: The Metabolic Basis of Inherited Disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, et al., eds.), p. 857, McGraw-Hill, New York.Google Scholar
  408. Suzuki, K., Schneider, E. L., and Epstein, C. J., 1971, In utero diagnosis of globoid cell leukodystrophy (Krabbe’s disease), Biochem. Biophys. Res. Commun. 45:1363.PubMedCrossRefGoogle Scholar
  409. Suzuki, Y., and Suzuki, K., 1970a, Cerebral GM1-gangliosidosis: A single disease or group of diseases?, J. Neuropathol. Exp. Neurol. 29:137.CrossRefGoogle Scholar
  410. Suzuki, Y., and Suzuki, K., 1970b, Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis, Neurology 20:848.PubMedGoogle Scholar
  411. Suzuki, Y., and Suzuki, K., 1971, Krabbe’s globoid cell leukodystrophy: Deficiency of galac-tocerebrosidase in serum leukocytes and fibroblasts, Science 171:73.PubMedCrossRefGoogle Scholar
  412. Suzuki, Y., Jacob, J. C., Suzuki, K., et al., 1971, GM2-Gangliosidosis with total hexosaminidase deficiency, Neurology 21:313.PubMedGoogle Scholar
  413. Suzuki, Y., Koizumi, Y., Togari, H., et al., 1973, Sandhoff disease: Diagnosis of heterozygous carriers by serum hexosaminidase assay, Clin. Chim. Acta 48:153.PubMedCrossRefGoogle Scholar
  414. Suzuki, Y., Nakamura, N., Fukuoka, K., et al., 1977, β-Galactosidase deficiency in juvenile and adult patients: Report of six Japanese cases and review of literature, Hum. Genet. 36:219.PubMedCrossRefGoogle Scholar
  415. Svennerholm, L., Hakansson, G., Lindsten, J., et al., 1981, Prenatal diagnosis of Gaucher disease, Clin. Genet. 19:16.PubMedCrossRefGoogle Scholar
  416. Svennerholm, L., Dreborg, S., and Erickson, A., 1982, Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations, in: Gaucher Disease: A Century of Delineation and Research (R. J. Desnick, S. Gatt, and G. A. Grabowski, eds.), p. 67, Liss, New York.Google Scholar
  417. Svennerholm, L., Mansson, J.-E., Nilsson, O., et al., 1984, Bone marrow transplantation in the Norrbottnian form of Gaucher disease, in: Molecular Basis of Lysosomal Storage Disease (J. A. Barranger and R. O. Brady, eds.), p. 441, Academic Press, New York.Google Scholar
  418. Sweeley, C. C., and Klionsky, B., 1963, Fabry’s disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid, J. Biol. Chem. 238:3148.PubMedGoogle Scholar
  419. Tanaka, H., and Suzuki, K., 1977, Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis, Clin. Chim. Acta 75:267.PubMedCrossRefGoogle Scholar
  420. Thanopoulos, B. D., and Frimas, C.A., 1982, Partial splenic embolization in the management of hyper-splenism secondary to Gaucher disease, J. Pediatr. 101:740.PubMedCrossRefGoogle Scholar
  421. Tonshoff, B., Lehnert, W., and Ropers, H.-H., 1982, Adrenoleukodystrophy: Diagnosis and carrier detection by determination of long-chain fatty acids in cultured fibroblasts, Clin. Genet. 22:25.PubMedCrossRefGoogle Scholar
  422. Toppet, M., Vamos-Hurwitz, E., Jonniaux, G., et al., 1978, Farber’s disease as a ceramidosis: Clinical, radiological and biochemical aspects, Acta Paediatr. Scand. 67:113.PubMedCrossRefGoogle Scholar
  423. Touraine, J. L., Malik, M. C., Traeger, J., et al., 1979, Attempt at enzyme replacement by fetal liver transplantation in Fabry’s disease, Lancet 1:1094.PubMedCrossRefGoogle Scholar
  424. Try, K., 1969, Heredopathia atactica polyneuritiformis (Refsum’s disease): The diagnostic value of phytanic acid determination in serum lipids, Eur. Neurol. 2:296.PubMedCrossRefGoogle Scholar
  425. Tsutsumi, O., Satoh, K., Sakamoto, S., et al., 1982, Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe’s disease, Clin. Chim. Acta 125:265.PubMedCrossRefGoogle Scholar
  426. Vaccaro, A. M., Kobayashi, T., and Suzuki, K., 1982, Comparison of synthetic and natural glucosyl-ceramides as substrate for glucosylceramidase assay, Clin. Chim. Acta 118:1.PubMedCrossRefGoogle Scholar
  427. Vance, D. E., Krivit, W., and Sweeley, C. C., 1969, Concentrations of glycosylceramides in plasma and red cells in Fabry’s disease, a glycolipid lipidosis, J. Lipid Res. 10:189.Google Scholar
  428. Van der Hagen, C. B., Borreson, A. L., Moine, K., et al., 1973, Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency, Clin. Genet. 4:256.PubMedCrossRefGoogle Scholar
  429. Vanier, M. T. (ed.), 1984, Neurolipidoses: Donnees Actuelles, Foundation Marcel Merieux, Lyon, France.Google Scholar
  430. Vanier, M. T., Revol, A., and Fichet, M., 1980, Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease—Development and evaluation of a microprocedure, Clin. Chim. Acta 106:257.PubMedCrossRefGoogle Scholar
  431. Vanier, M. T., Svennerholm, L., Mansson, J.-E., et al., 1981, Prenatal diagnosis of Krabbe disease, Clin. Genet. 20:79.PubMedCrossRefGoogle Scholar
  432. Vidgoff, J., Buist, N. R. M., and O’Brien, J. S., 1973, Absence of β-N-acetyl-D-hexosaminidase A activity in a healthy woman, Am. J. Hum. Genet. 25:312.Google Scholar
  433. Waheed, A., Hasilik, A., and vonFigura, K., 1982, Enhanced breakdown of arylsulfatase A in multiple sulfatase deficiency, Eur. J. Biochem. 123:317.PubMedCrossRefGoogle Scholar
  434. Wallace, H. J., 1958, Angiokeratoma corporis diffusum, Br. J. Dermatol. 70:354.PubMedCrossRefGoogle Scholar
  435. Wallis, K., Gross, M., Kohn, R., et al., 1971, A case of Wolman’s disease, Helv. Paediatr. Acta 26:98.PubMedGoogle Scholar
  436. Warner, T. G., Robertson, A. D., and O’Brien, J. S., 1983, Diagnosis of GM1 gangliosidosis based on detection of urinary oligosaccharides with high performance liquid chromatography, Clin. Chim. Acta 127:313.PubMedCrossRefGoogle Scholar
  437. Weingeist, T. A., and Blodi, F. C., 1973, Fabry’s disease: Ocular findings in a female carrier. A light and electron microscopic study, Arch. Ophthalmol. 85:169.CrossRefGoogle Scholar
  438. Wenger, D. A., 1974, Studies on galactosyl ceramide and lactosyl ceramide β-galactosidase, Chem. Phys. Lipids 13:327.PubMedCrossRefGoogle Scholar
  439. Wenger, D. A., 1977, Niemann-Pick disease, in: Practical Enzymology of the Sphingolipidoses (R. H. Glew and S. P. Peters, eds.), p. 39, Liss, New York.Google Scholar
  440. Wenter, D. A., 1979, The lipidoses, in: Neurogenetics: Genetic Approaches to the Nervous System (X. O. Breakfield, ed.), p. 283, Elsevier, New York.Google Scholar
  441. Wenger, D. A., and Inui, K., 1984, Studies on the sphingolipid activator protein for the enzymatic hydrolysis of GM1 ganglioside and sulfatide, in: The Molecular Basis of Lysosomal Storage Disorders (R. O. Brady and J. A. Barranger, eds.), p. 61, Academic Press, New York.Google Scholar
  442. Wenger, D. A., and Olson, G. C., 1981, Heterogeneity in Gaucher disease, in: Lysosomes and Lysosomal Storage Diseases (J. W. Callahan and J. A. Lowden, eds.), p. 157, Raven Press, New York.Google Scholar
  443. Wenger, D. A., and Riccardi, V. M., 1976, Possible misdiagnosis of Krabbe disease, J. Pediatr. 88:76.PubMedCrossRefGoogle Scholar
  444. Wenger, D. A., and Roth, S., 1982, Homozygote and heterozygote identification, in: Gaucher Disease: A Century of Delineaton and Research (R. J. Desnick, S. Gatt, and G. A. Grabowski, eds.), p. 551, Liss, New York.Google Scholar
  445. Wenger, D. A., Sattler, M., Clark, C., et al., 1974, An improved method for the identification of patients and carriers of Krabbe’s disease, Clin. Chim. Acta 56:199.PubMedCrossRefGoogle Scholar
  446. Wenger, D. A., Barth, G., and Githen, J. H., 1977, Nine cases of sphingomyelin lipidosis. A new variant in Spanish-American children, Am. J. Dis. Child. 131:955.PubMedGoogle Scholar
  447. Wenger, D. A., Tarby, T. J., and Wharton, C., 1978a, Macular cherry-red spots and myoclonus with dementia: Coexistant neuraminidase and β-galactosidase deficiencies, Biochem. Biophys. Res. Commun. 82:589.PubMedCrossRefGoogle Scholar
  448. Wenger, D. A., Clark, C., Sattler, M., et al., 1978b, Synthetic substrate β-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher’s disease, Clin. Genet. 13:145.PubMedCrossRefGoogle Scholar
  449. Wenger, D. A., Wharton, C., Sattler, M., et al., 1978c, Niemann-Pick disease: Prenatal diagnoses and studies of sphingomyelinase activities, Am. J. Med. Genet. 2:345.PubMedCrossRefGoogle Scholar
  450. Wenger, D. A., Sattler, M., Mueller, O. T., et al., 1980a, Adult GM1 gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis, Clin. Genet. 17:323.PubMedCrossRefGoogle Scholar
  451. Wenger, D. A., Sattler, M., Kudoh, T., et al., 1980b, Niemann-Pick disease: A genetic model in Siamese cats, Science 208:1471.PubMedCrossRefGoogle Scholar
  452. Wenger, D. A., Kudoh, T., Sattler, M., et al., 1981, Niemann-Pick disease type B: Prenatal diagnosis and enzymatic and chemical studies on fetal brain and liver, Am. J. Hum. Genet. 33:337.PubMedGoogle Scholar
  453. Wenger, D. A., Roth, S., and Sattler, M., 1982, Acute neuronopathic (infantile) and chronic non-neu-ronopathic (adult) Gaucher disease in full siblings, J. Pediatr. 100:252.PubMedCrossRefGoogle Scholar
  454. Wenger, D. A., Roth, S., Kudoh, T., et al., 1983, Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage, Pediatr. Res. 17:344.PubMedCrossRefGoogle Scholar
  455. Wiedemann, H. R., Debuch, H., Lennert, K., et al., 1972, Infantile-juvenile, slowly progressive lipidosis: Belonging to the sphingomyelinoses (Niemann-Pick)—A new type?, Z. Kinderheilkd. 112:187.PubMedCrossRefGoogle Scholar
  456. Willner, J. P., Grabowski, G. A., Gordon, R. E., et al., 1981, Chronic GM2 gangliosidosis masquerading as atypical Fredreich ataxia: Clinical, morphological and biochemical studies of nine cases, Neurology 31:787.PubMedGoogle Scholar
  457. Winkelman, M. D., Banker, B. Q., Victor, M., et al., 1983, Non-infantile neuronopathic Gaucher’s disease: A clinicopathologic study, Neurology 33:994.PubMedGoogle Scholar
  458. Winsor, E. J. T., and Welch, J. P., 1978, Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D), Am. J. Hum. Genet. 30:530.PubMedGoogle Scholar
  459. Wise, D., Wallace, H. J., and Jellinck, E. H., 1962, Angiokeratoma corporis diffusum: A clinical study of eight affected families, Q. J. Med. 31:177.PubMedGoogle Scholar
  460. Wolfe, L. S., Callahan, J. W., Fawcett, J. S., et al., 1970, GM1-Gangliosidosis without chondrodystrophy or visceromegaly: β-Galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate, Neurology 20:23.PubMedGoogle Scholar
  461. Wolman, M., Sterk, V. V., Gatt, S., et al., 1961, Primary familial xanthomatosis with involvement and calcification of the adrenals: Report of two more cases in siblings of a previously described infant, Pediatrics 28:742.PubMedGoogle Scholar
  462. Wood, S., and MacDougall, B. G., 1976, Juvenile Sandhoff disease: Some properties of the residual hexosaminidase in cultured fibroblasts, Am. J. Hum. Genet. 28:489.PubMedGoogle Scholar
  463. Wood, S., and Nadler, H. L., 1972, Fabry’s disease: Absence of an α-galactosidase isozyme, Am. J. Hum. Genet. 24:250.PubMedGoogle Scholar
  464. Yamamoto, A., Adachi, S., Kawamura, S., et al., 1974, Localized β-galactosidase deficiency: Occurrence in cerebellar ataxia with myoclonus epilepsy and macular cherry red spot—A new variant of GM1 gangliosidosis?, Arch. Intern. Med. 134:627.PubMedCrossRefGoogle Scholar
  465. Yamamoto, T., Davis, C. G., Brown, M. S., et al., 1984, The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA, Cell 39:27.PubMedCrossRefGoogle Scholar
  466. Yeager, A. M., Brennan, S., Tiffany, C., et al., 1984, Prolonged survival and remyelination after hematopoietic cell trasnplantation in the twitcher mouse, Science 225:1052.PubMedCrossRefGoogle Scholar
  467. Young, E. P., and Patrick, A. D., 1970, Deficiency of acid esterase activity in Wolman’s disease, Arch. Dis. Child. 45:664.PubMedCrossRefGoogle Scholar
  468. Young, E., Wilson, J., Patrick, A. D., et al., 1972, Galactocerebrosidase deficiency in globoid cell leukodystrophy of late onset, Arch. Dis. Child. 47:449.PubMedCrossRefGoogle Scholar
  469. Yutaka, T., Okada, S., Kato, T., et al., 1981, Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients, Clin. Genet. 20:296.PubMedCrossRefGoogle Scholar
  470. Zeigler, M., Zlotogora, J., Regev, R., et al., 1984, Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide, Clin. Chim. Acta 142:313.PubMedCrossRefGoogle Scholar
  471. Zeman, W., 1976, The neuronal ceroid-lipofuscinoses, in: Progress in Neuropathology, Vol. III (H. M. Zimmerman, ed.), p. 203, Grune and Stratton, New York.Google Scholar
  472. Zeman, W., and Dyken, P., 1969, Neuronal ceroid-lipofuscinosis (Batten’s disease): Relationship to amaurotic family idiocy?, Pediatrics 44:570.PubMedGoogle Scholar
  473. Zitman, D., Chazan, S., and Klibansky, C., 1978, Sphingomyelinase activity levels in human peripheral blood leukocytes, using (3H) sphingomyelin as substrate: Study of heterozygotes and homozygotes for Niemann-Pick disease variants, Clin. Chim. Acta 86:37.PubMedCrossRefGoogle Scholar

Copyright information

© Aubrey Milunsky 1986

Authors and Affiliations

  • David A. Wenger
    • 1
  1. 1.Division of Medical Genetics, Departments of Medicine and BiochemistryJefferson Medical CollegePhiladelphiaUSA

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