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Hemolytic Anemia due to Other Enzyme Deficiencies

  • Ernest Beutler
Part of the Topics in Hematology book series (TOHE)

Abstract

Hexokinase deficiency was first described by Löhr et al.1 in patients with Fanconi’s syndrome. In these patients the enzyme deficiency was probably a secondary phenomenon arising from chromosome breaks.2 Hereditary deficiency of hexokinase as a primary phenomenon was described in 1967 by Valentine et al.3 Only a few additional cases have been studied since that time.4–11

Keywords

Glutathione Reductase Hemolytic Anemia GSHPx Activity Flavine Adenine Dinucleotide Enzyme Deficiency 
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. 1.
    LOEHR, G.W., WALLER, H.D., ANSCHUETZ, F., KNOPP, A., 1965, BIOCHEMISCHE DEFEKTE IN DEN BLUTZELLEN BEI FAMILIAFRER PANMYELOPATHIE (TYP FANCONI). HUMANGENETIK 1: 383–387CrossRefGoogle Scholar
  2. 2.
    SCHROEDER, T.M., 1966, CYTOGENETISCHE UND CYTOLOGISCHE BEFUNDE BEI ENZYMOPENISCHEN PANMYFLOPATHIEN UND PANCYTOPENIEN. HUMANGENETIK 2: 287–316PubMedCrossRefGoogle Scholar
  3. 3.
    VALENTINE, W.N., OSKI, F.A., PAGLIA, D.E., BAUGHAN, M.A., SCHNEIDER, A.S., NAIMAN, J.L., 1967, HEREDITARY HEMOLYTIC ANEMIA WITH HEXOKINASE DEFICIENCY. ROLF OF HEXOKINASE IN ERYTHROCYTE AGING. N ENGL J MED 276: 1–11PubMedCrossRefGoogle Scholar
  4. 4.
    NECHELES, T.F., RAI, U.S., CAMERON, D., 1970, CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA ASSOCIATED WITH AN UNUSUAL ERYTHROCYTE HEXOKINASE: ABNORMALITY. J LAB CLIN MED 76: 593–602Google Scholar
  5. 5.
    BADALYAN, L.O., BONDARENKO, E.S., ERMILCHENKO, G.V., 1970, HEREDITARY NONSPECIFIC HEMOLYTIC ANEMIA ASSOCIATED WITH A DEFICIENCY OF ERYTHROCYTE HEXOKINASE: IN COMBINATION WITH GLYCOGENOSIS OF THE MUSCLES (RUSSIAN). KL1N MED (MOSK) 48:156–163 (EXCERPTA MEDICA 5: 420 )Google Scholar
  6. 6.
    GOEBEL, K.M., GASSEL, W.D., GOEBEL, F.D., KAFFARNIK, H., 1972, HEMOLYTIC ANEMIA, HEXOKINASF DEFICIENCY ASSOCIATED WITH MALFORMATIONS. KLIN WOCHENSCHR 50: 349–851CrossRefGoogle Scholar
  7. 7.
    KEITT, A.S., 1969, HEMOLTIC ANEMIA W]TH IMPAIRED HEXOKINASE ACTIVITY. J CLIN INVEST 48: 1997–2007PubMedCrossRefGoogle Scholar
  8. 8.
    SEMENUK, M., WICKS, P., TOEWS.C.J., BRAIN, M.C., 1975, HEXOKINASE HAMILTON: AN ENZYME VARIANT WITH ABNORMAL KM FOR ADENOSINE TRIPHOSPHATE (ATP) IN NON-SPHEROCYTIC HEMOLYTIC ANEMIA. CLINICAL RESEARCH 23:628A (ABSTRACT)Google Scholar
  9. 9.
    BEUTLER, E., 1975, UNPUBLISHEDGoogle Scholar
  10. 10.
    MOSER, K., 1969,. DIE KONGENITALEN ENZYMOPENISCHEN HAEMOLYTISCHEN ANAEMIEN. WIEN KLIN WOCHFNSCHR 14: 249–258Google Scholar
  11. 11.
    MOSER, K., CIRESA, M., SCHWARZMEIEP, J., 1970, HEXOKINASEMANGEL BEI HAEMOLYTISCHER ANAEMIE. MED WELT 21: 1976–1981Google Scholar
  12. 12.
    BEUTLER, E., DYMENT, P.G., MATSUMOTO, F., 1978, HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA, HEXOKINASF DEFICIENCY. BLOOD IN PRESSGoogle Scholar
  13. 13.
    KAPLAN, J.C., BEUTLER.E., 1968, HEXOKINASE ISOENZYMES IN HUMAN ERYTHROCYTES. SCIENCE 159: 215–216Google Scholar
  14. 14.
    ALTAY, C., ALPER, C.A., NATHAN, D.G., 1970, NORMAL, VARIANT ISOENZYMES OF HUMAN BLOOD CELL HEXOKINASE, THE ISOENZYME PATTERNS IN HEMOLYTIC ANEMIA. BLOOD 36: 219–227PubMedGoogle Scholar
  15. 15.
    SPENCER.N., HOPKINSON, D.A., HARRIS, H., 1964, AN ELECTROPHORETIC STUDY OF THE DISTRIBUTION, PROPERTIES OF HUMAN HEXOKINASES. NATURE 204: 742–745PubMedCrossRefGoogle Scholar
  16. 16.
    MALONE, J.I., WINEGRAD, A.I., OSKI, F.A., HOLMES JR, E.W., 1968, ERYTHROCYTE HEXOKINASE ISUENZYME PATTERNS IN HEREDITARY HEMOGLOBINUPATHIES. N ENGL J MED 279: 1071–1077Google Scholar
  17. 17.
    DELIVORIA-PAPADOPOULOS, M., OSKI, F.A., GOTTLIEB, A.J., 1969, OXYGEN-HEMOGLOBIN DISSOCIATION CURVES: EFFECT OF INHERITED ENZYME DEFECTS OF THE RED CELL. SCIENCE 165: 601–602Google Scholar
  18. 18.
    BAUGHAN, M.A., VALENTINE, W.N., PAGLIA, D.E., WAYS, P.O., SIMON, E.R., DE MARSH2O.B., 1968, HEREDITARY HEMOLYTIC ANEMIA ASSOCIATED WITH GLUCOSEPHOSPHATE ISOMERASF (GPI) DEFICIENCY–A NEW ENZYME DEFECT OF HUMAN ERYTHROCYTES. BLOOD 32: 236–249Google Scholar
  19. 19.
    KAHN, A., CUTTHEAU, D., BOYFR, C., MARJE:, J., GALAND, C., BOIVIN, P., 1976, CAUSAL MECHANISMS OF MULTIPLE ACQUIRED RED CELL ENZYME DEFECTS IN A PATIENT WITH ACQUIRED DYSERYTHROPOIESIS. BLOOD 48: 653–662Google Scholar
  20. PAGLIA, D.E., VALENTINE, W.N., 1.974, HEREDITARY GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY. A REVIEW. AM J CLIN PATHOL 62:740–751Google Scholar
  21. 21.
    SCHROETER, W., KOCH, H.H., WONNEBERGER, B., KALINOWSKY, W., 1974, GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY WITH CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA: A NEW VARIANT (TYPE NORDHORN) I. CLINICAL, GENETIC STUDIES. PEDIATR RES 8: 18–25Google Scholar
  22. 22.
    ARNOLD, H., BLUME, K.G., LOEHR, G.W., 1974, GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY WITH CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA: A NEW VARIANT (TYPE NORDHORN). II. PURIFICATION, BIOCHEMICAL PROPERTIES OF THE DEFECTIVE ENZYME. PEDIATR RES 8: 26–30Google Scholar
  23. 23.
    BEUTLER, E., SIGALOYE, W.H., MUIR, W.A., MATSUMOTO, F., WEST, C., 1974, GLUCOSEPHOSPHATE-ISOMERASE (GPI) DEFICIENCY: GPI ELYRIA. ANN INTERN MED 80: 730–732Google Scholar
  24. 24.
    PAGLIA, D.E., PAREDES, R., VALENTINE, W.N., DORANTES, S., KONRAD, P.N., 1975, UNIQUE: PHENOTYPIC EXPRESSION OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY. AM J HUM GENET 27: 6270Google Scholar
  25. 25.
    MIWA, S., NAKASHIMA, K., TAJIRI, M., ONO, J., ABE, S., ODA, E., NONAKA, H., MATSUOKA, I., SHIMOYAMA, S., HIRATA, Y., AMAKI, I., HORIUCHI, A., YAMAGUCHI, H., NISHINA, T., 1975, THREE CASES IN TWO FAMILIES WITH CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO DEFECTIVE GLUCOSEPHOSPHATE ISOMERASE: GPI MATSUMOTO. ACTA HAEMATOL JAP 38: 238–247Google Scholar
  26. 26.
    VIVES-CORRONS, J.L., ROZMAN, C., KAHN, A., CARRERA, A., TRIGINER, J., 1975, GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY WITH HEREDITARY HEMOLYTIC ANEMIA IN A SPANISH FAMILY: CLINICAL, FAMILIAL STUDIES. HUMANGENETIK 29: 291–297Google Scholar
  27. 27.
    VAN BIERVLIET, J.P., VLUG.A., BARTSTRA, H., ROTTFVEEL, J.J., DE VAAN, G.A.M., STAAL.G.E.J., 1975, A NEW VARIANT OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY. HUMANGENETIK 30: 3540Google Scholar
  28. 28.
    VAN BIERVLIET, J.P.G., VAN MILLIGEN-BOERSMA, L., STAAL.G.E.J., 1975, A NEw VARIANT OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY (GPI-UTRECHT). CLIN CHIM ACTA 65: 157–165PubMedGoogle Scholar
  29. 29.
    ARNOLD, H., SEIBERLING, M., BLUME, K.G., LOEHR.G.W., 1975, IMMUNOLOGICAL STUDIES ON GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY: INSTABILITY, IMPAIRED SYNTHESIS OF THE DEFECTIVE ENZYME. KLIN WOCHENSCHR 53: 1135–1136Google Scholar
  30. 30.
    KAHN, A., VIVES, J.-.L., BERTRAND, O., COTTREAU, D., MARIE, J., BOIVIN, P., 1976, GLUCOSE-PHOSPHATE ISOMERASE DEFICIENCY DUE TO A NEW VARIANT (GP I BARCELONA), TO A SILENT GENE: BIOCHEMICAL, IMMUNOLOGICAL, GENETIC STUDIES. CLIN CHIM ACTA 66: 145–155PubMedCrossRefGoogle Scholar
  31. 31.
    VAN BIERVLIET, J.P.G., 1975, GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY IN A DUTCH FAMILY. ACTA PAEDIATR SCAND 64: 868–872PubMedCrossRefGoogle Scholar
  32. 32.
    HELLEMAN, P.W., VAN BIERVLIET, J.P.M., 1975, HAEMATOLOGICAL STUDIES IN A NEW VARIANT OF GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY (GPI UTRECHT). HELV PAEDIATR ACTA 30: 525–536Google Scholar
  33. 33.
    VAN BIERVLIET J-P, G.M., STAAL, G.F.J., 1977, EXCESSIVE HEPATIC GLYCOGEN STORAGE IN GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY. ACTA PAEDIATR SCAND 66: 311–315Google Scholar
  34. 34.
    SCHROETER, W., TILLMANN, w., 1977, CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA ASSOCIATED WITH GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY: ‘VARIANT PADERBORN. KLIN WOCHENSCHR 55: 393–396CrossRefGoogle Scholar
  35. 35.
    ARNOLD, H., ENGELHARDT, R., LOEHR, G.W., 1973, GLUCOSEPHOSPHAT-ISOMERASE TP RECKLINGHAUSEN- FINE: NEUE DEFEKTVARIANTE MIT HAEMOLYTISCHER AENAMIE. KLIN WOCHENSCHR 51: 1198–1204PubMedCrossRefGoogle Scholar
  36. 36.
    ARNOLD, H., BLUME, K.G., BUSCH, D., LENKEIT, U., LOEHR, G.W., LUEHS, E., 1970, KLINISCHE UND BIOCHEMISCHE UNTERSUCHUNGEN ZUR GLUCOSEPHOSPHATISOMERASE: NORMALER MENCHLICHER ERYTHROCYTEN UND BEI GLUCOSEPHOSPHATIOSMERASE- MANGEL. KLIN WOCHENSCHR 48: 1299–1308PubMedCrossRefGoogle Scholar
  37. 37.
    SCHROETER, W., BRITTINGER, G., ZIMMEPSCHMITT, E., KOENIG, E., SCHRADER, D., 1971, COMBINED GLUCOSEPHOSPHATF ISOMERASE, GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY OF THE ERYTHROCYTES: A NEW HAEMOLYTIC SYNDROME. HR J HA£MATOL 20: 249–261Google Scholar
  38. 38.
    BLUME, K.G., HRYNIUK, W., POWARS, D., TRINIDAD, F., WE:ST, C., BEUTLER, E., 1972, CHARACTERIZATION OF TWO NFw VARIANTS OF GLUCOSE-PHOSPHATE-ISOMERASE DEFICIENCY WITH HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA. J LAB CLIN MED 79: 942–949Google Scholar
  39. 39.
    MIWA, S., NAKASHIMA, K., ODA, S., ODA, E., MATSUMOTO, N., OGAWA, H., FUKUMOTO, Y., 1973, GLUCOSEPHOSPHATE ISOMERASE (GPI) DEFICIENCY. HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA. REPORT OF THE FIRST CASE FOUND IN JAPANESE. ACTA HAEMATOL JAP 36: 65–69Google Scholar
  40. 40.
    MIWA, S., NAKASHIMA, K., ODA, S., MATSUMOTO, N., OGAWA, H., KOBAYASHI, R., KOTANI, M., HARATA, A., ONAYA, T., YAMADA, T., 1973, GLUCOSEPHOSPHATE ISOMERASE (GPI) DEFICIENCY HEREDITARY NONSPHFROCYTIC HEMOLYTIC ANEMIA. REPORT OF SECOND CASE FOUND IN JAPANESE. ACTA HAEMATOL JAP 36: 70–73Google Scholar
  41. 41.
    TILLEY, B.E., GRACY, R.W., WELCH, S.G., 1974, A POINT MUTATION INCREASING THE STABILITY OF HUMAN PHOSPHOGLUCOSE ISOMkRASE. J HIOL CHEM 249: 4571–4579Google Scholar
  42. 42.
    DETTER, J.C., WAYS, P.O., GIBLETT.E.P., BAUGHAN, M.A., HOPKINSON, D.A., POVEY, S., HARRIS, H., 1968, INHERITED VARIATIONS IN HUMAN PHOSPHOHEXOSE ISOMERASE. ANN HUM GENET 31: 329–338PubMedCrossRefGoogle Scholar
  43. 43.
    PAYNE, D.M., PORTER, D.W., GRACY, R.W., 1972, EVIDENCE AGAINST THE OCCURRENCE OF TISSUE-SPECIFIC VARIANTS, ISOENZYMES OF PHOSPHOGLUCOSF ISOMERASE. ARCH RIOCHEM BIOPHYS 151: 122–127CrossRefGoogle Scholar
  44. 44.
    NAKASHIMA, K., MIWA, S., ODA, S., ODA, E., MATSUMOTO, N., FUKUMOTO, Y., YAMADA, T., 1973, ELF:CTPOPHORFTIC, KINETIC STUDIES OF GLUCOSEPHOSPHATE ISOMERASE (GPI) IN TWO DIFFERENT JAPANESE FAMILIES WITH GPI DEFICIENCY. AM J HUM GENET 25: 294–301PubMedGoogle Scholar
  45. 45.
    HUTTON, J.J., CHILCOTE, R.R., 1974, GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY WITH HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA. J PE:DIATR 85: 494–497Google Scholar
  46. 46.
    GIBLETT, E.R., 1969, GENETIC MARKERS IN HUMAN BLOOD FA DAVIS CO, PHILADELPHIAGoogle Scholar
  47. 47.
    LOEHR, G.W., ARNOLD, H., BLUME, K.G., ENGELHARDT, R., BEUTLER, E., 1973, HEREDITARY DEFICIENCY OF GLi1COSEPHOPHATE ISOMERASE AS A CAUSE OF NONSPHEROCYTIC HEMOLYTIC ANEMIA. BLUT 26: 393–398CrossRefGoogle Scholar
  48. 48.
    KAHN, A., ETIEMBLE, J., MEIENHOFER, M.C., BOIVIN, P., GALAND, C., COTTREAU, D., MARIE:, J., 1975, ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY ASSOCIATED WITH AN UNSTABLE VARIANT OF MUSCLE PHOSPHOFRUCTOKINASE. CLIN CHIM ACTA 61: 415–419Google Scholar
  49. 49.
    ARNOLD, H., BLUME, K.G., ENGELHARDT, R., LOEHR, G.W., 1973, GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY: EVIDENCE FOR IN VIVO INSTABILITY OF AN ENZYME VARIANT WITH HFMOLYSIS. BLOOD 41: 691–699PubMedGoogle Scholar
  50. 50.
    PAGLIA, D.E., HOLLAND, P., BAUGHAN, M.A., VAIENTINF., W.N., 1969, OCCURRENCE OF DEFECTIVE HEXOSFPHOSPHATF: ISOMERIZATION IN HUMAN ERYTHROCYTES, LEUKOCYTES. N ENGL J MED 280: 6671Google Scholar
  51. 51.
    MUELLER, E., MARTI, H.R., BACH, J., MICHEI•I, J.L., GASSER, C., 1974, HEREDITAERE NICHT-SPHAEROZYTAERE HAEMOLYTISCHE ANAEMIE DURCH GLUKOSEPHOSPHATISOMERASE-MANGEL: DER ERSTE IN DER SCHWEIZ BEOBACHTETE FALL. SCHWEIZ MEID WOCHENSCHR 104: 1379–1381Google Scholar
  52. OSKI, F., FULLER, E., 1971, GLUCOSE:-PHOSPHATE: ISOMERASE (GPI) DEFICIENCY ASSOCIATED WITH ABNORMAL OSMOTIC FRAGILITY, SPHEROCYTES. CLINICAL RESEARCH 19: 427 (ABSTRACT)Google Scholar
  53. 53.
    VAN BIERVLIET, J.P.G., 1975, GLUCOSEPHOSPHATE ISOMERASE DEFICIENCY DRUKKERIJ ELINKWIJK BV, UTRECHTGoogle Scholar
  54. 54.
    CHILCOTE, R.R., BAEHNER, R.L., 1974, RED CELL (RBC) GLUCOSE PHOSPHATE-ISOMERASE DEFICIENCY (GPI): CLINICAL, LABORATORY EVIDENCE OF INCREASED BLOOD VISCOSITY. PEDIATR RES 8: 398 (ABSTRACT)Google Scholar
  55. 55.
    BEUTLER, E., 1975, RED CELL METABOLISM. A MANUAL OF BIOCHEMICAL METHODS 2ND EDITON, GRUNE i STRATTON, NEW YORKGoogle Scholar
  56. 56.
    BLUME, K.G., BEUTLER, E., 1972, DETECTION OF GLUCOSE-PHOSPHATE ISOMERASE DEFICIENCY BY A SCREENING PROCEDURE. BLOOD 39: 685–687PubMedGoogle Scholar
  57. 57.
    MATSUMOTO, N., ISHIHARA, T., ODA, E., MIWA, S., NAKASHIMA, K., UCHINO, F., FUKUMOTO, Y., 1973, FINE STRUCTURE OF THE SPLEEN, LIVER IN GLUCOSE-PHOSPHATE ISOMERASE (GPI) DEFICIENCY. HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA-SELECTIVE RETICULOCYTE DESTRUCTION AS A MECHANISM OF HEMOLYSIS. ACTA HAEMATOL JAP 36: 46–54Google Scholar
  58. 58.
    TARUI, S., OKUNO, G., IKURA, Y., TANAKA, T., SUDA, M., NISHIKAWA, M., 1965, PHOSPHOFRUCTOKINASE: DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. BIOCHEM BIOPHYS RES COMMUN 19: 517–523PubMedCrossRefGoogle Scholar
  59. 59.
    TARUI, S., KONO, N., NASU, T., NISHIKAWA, M., 1969, ENZYMATIC BASIS FOR THE COEXISTENCE OF MYOPATHY, HEMOLYTIC DISEASE IN INHERITED MUSCLE PHOSPHOFRUCTOKINASE: DEFICIENCY. BIOCHEM BIOPHYS RES COMMUN 34: 77–83CrossRefGoogle Scholar
  60. 60.
    LAYZER, R.B., ROWLAND, L.P., RANNEY, H.M., 1967, MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY. ARCH NEUROL 17: 512–523PubMedCrossRefGoogle Scholar
  61. 61.
    SERRATRICE, G., MONGES, A., ROUX, H., AQUARON, R., GAMBARELLI, D., 1969, FORME MYOPATHIQUE DU DEFICIT EN PHOSPHOFRUCTOKINASE. REV NEUROL (PARIS) 120: 271–277Google Scholar
  62. 62.
    WATERBURY.L., FRENKEL, E.P., 1972, HEREDITARY NONSPHEROCYTIC HEMOLYSIS WITH ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY. BLOOD 39: 415–425Google Scholar
  63. 63.
    LUTCHER, C.L., BIGLEY, R.L., 1974, HEMOLYTIC ANEMIA DUE TO PHOSPHOFRUCTOKINASE (PFK) DEFICIENCY. CLINICAL RESEARCH 22:66A (ABSTRACT)Google Scholar
  64. 64.
    ODA, S., ODA, E., TANAKA, K.R., 1977, ERYTHROCYTE PHOSPHOFRUCTOKINASE (PFK) DEFICIENCY: CHARACTERIZATION, METABOLIC STUDIES. CLINICAL RESEARCH 25: 344A (ABSTRACT)Google Scholar
  65. 65.
    MIWA, S., SATO, T., MURAO, H., KOZURU, M., IBAYASHI, H., 1972, A NEW TYPE OF PHOSPHOFRUCTOK1NASE DEFICIENCY HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA. ACTA HAEMATOL JAP 35: 113–118Google Scholar
  66. 66.
    NIESSNER.H., BEUTLER, E., 1974, STARCH GEL ELECTROPHORESIS OF PHOSPHOFRUCTOKINASE IN RED CELLS. BIOCHEM MED 9: 73–76PubMedCrossRefGoogle Scholar
  67. 67.
    LAYZER.R.B., POWLAND, L.P., BANK, W.J., 1969, PHYSICAL, KINETIC PROPERTIES OF HUMAN PHOSPHOFRUCTOKINASE FROM SKELETAL MUSCLE, ERYTHROCYTES. J BIOI CHEM 244: 3823–3831Google Scholar
  68. 68.
    ETIEMBLE, J., KAHN, A., BOIVIN, P., BERNARD, J.F., GOUDEMAND, M., 1976, HEREDITARY HEMOLYTIC ANEMIA WITH ERYTHROCYTE PHOSPHOFRUCTOKINASE DEFICIENCY. HUM GENET 31: 83–91PubMedCrossRefGoogle Scholar
  69. 69.
    TARUI, S., KONO, N., KUMAJIMA, M., 1976, INTERRELATION BETWEEN PHOSPHOFRUCTOKINASE ACTIVITY, 2, 3DIPHOSPHOGLYCERATE LEVEL IN ERYTHROCYTES: STUDIES ON HERDITARY PHOSPHOFRUCTOKINASE DEFICIEïNCY, DIABETIC KEOTACIDOSIS. 16TH CONGRESS INTERNATIONAL SOCIETY OF HEMATOLOGY, KYOTO ABSTRACT 2–68Google Scholar
  70. 70.
    KARADSHEH, N.S., UYEDA, K., OLIVER, R.M., 1977, STUDIES ON STRUCTURE OF HUMAN ERYTHROCYTE PHOSPHOFRUCTOKINASE. J BIOL CHEM 252: 3515–3524PubMedGoogle Scholar
  71. 71.
    BEUTLER, E., SCOTT, S., BISHOP, A., MARGOLIS, N., MATSUMOTU, F., KUHL, W., 1974, RED CELL ALDOLASE DE.FICIENCY, HEMOLYTIC ANEMIA: A NEW SYNDROME. TRANS ASSOC AM PHYSICIANS 86: 154–166Google Scholar
  72. 72.
    PENHOET, E., RAJKUMAR, T., RUTTER, W.J., 1966, MULTIPLE FORMS OF FRUCTOSE DIPHOSPHATE ALDOLASF IN MAMMALIAN TISSUES. PROC NATL ACAD SC1 USA 56: 1275–1282CrossRefGoogle Scholar
  73. 73.
    LEBHERZ, H.G., RUTTER, W.J., 1969, DISTRIBUTION OF FRUCTOSE DIPHOSPHATE ALDOLASE VARIANTS IN BIOLOGICAL SYSTEMS. BIOCHEMISTRY 8: 109–121PubMedCrossRefGoogle Scholar
  74. 74.
    MIDELFORT, C.F., MEHLER, A.H., 1972, DEAMIDATION IN VIVO OF AN ASPARAGINE RESIDUE OF RABBIT MUSCLE ALDOLASE. PROC NATL ACAD SCI USA 69: 1816–1819PubMedCrossRefGoogle Scholar
  75. 75.
    BEUTLER, E., 1977, COMMENT ON “ ‘ALDOLASE A’ DEFICIENCY WITH SYNDROME OF GROWTH, DEVELOPMENTAL RETARDATION, MIDFACIAL HYPOPLASIA, HEPATOMEGALY,, CONSANGUINEOUS PARENTS” BY R.B. LOWRY, J.W. HANSON. BIRTH DEFECTS: ORIGINAL ARTICLE SERIES ALDOLA, S.E. ED. 13: 227–228Google Scholar
  76. 76.
    SCHNEIDER, A.S., VALENTINE, W.N., HATTORI, M., HEINS JR, H.L., 1965, HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. N ENGL J MED 272: 229–235PubMedCrossRefGoogle Scholar
  77. 77.
    FREYCON, F., LAURAS, B., BOVIER-LAPIERRE, F., 1975, HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSE PHOSPHATE ISOMERASE DEFICIENCY. PEDIATRIE 30: 55–65Google Scholar
  78. 78.
    HARRIS, S.R., PAGLIA, D.E., JAFEF., E.R., VALENTINE, W.N., KLEIN, R.L., 1970, TRIOSEPHOSPHATE’. ISOMERASE DEFICIENCY IN AN ADULT. CLINICAL RESEARCH 18: 5–29Google Scholar
  79. 79.
    VALENTINE, W.N., SCHNEIDER, A.S., BAUGHAN, M.A., PAGLIA, D.E., HEINS JR, H.L., 1966, HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. AM J MED 41: 27–41CrossRefGoogle Scholar
  80. 80.
    BEUTLER, E,, BATTLES, N., 1977, UNPUBLISHEDGoogle Scholar
  81. 81.
    SCHNEIDER, A.S., VALENTINE, W.N., BAUGHAN, M.A., PAGLIA, D.E., SHORE, N.A., HEINS JR, H.L., 1968, TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. A MULTI-SYSTEM INHERITED ENZYME DISORDER: CLINICAL, GENETIC ASPECTS. HEREDITARY DISORDERS OF ERYTHROCYTE METABOLISM BEUTLER, E. ED. 265–272, CITY OF HOPE SYMP. SERIES, VOL. I, GRUNE i STRATTON, N.Y.Google Scholar
  82. 82.
    ROZACKY, E.E., SAWYER, T.H., BARTON, R.A., GRACY, R, W., 1971, STUDIES ON HUMAN TRIOSEPHOSPHATE: ISOMERASE. 1. ISOLATION, PROPERTIES OF THE ENZYME FROM ERYTHROCYTES. ARCH BIOCHEM BIOPHYS 146: 312–320Google Scholar
  83. 83.
    KAPLAN, J.C., TEEPLE, L., SHORE, N., BEUTLER, E., 1968, ELECTROPHORETIC ABNORMALITY IN TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. BIOCHEM BIOPHYS RES COMMUN 31: 768–773PubMedCrossRefGoogle Scholar
  84. 84.
    SCHNEIDER, A.S., DUNN, I., IBSE:N, K.H., WEINSTEIN, I.M., 1968, TRIOSEPHOSPHATF ISOMERASE DEFICIENCY. B. INHERITED TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. ERYTHROCYTE CARBOHYDRATE METABOLISM, PRELIMINARY STUDIES. HEREDITARY DISORDERS OF ERYTHROCYTE METABOLISM BEUTLER, E. ED, 273–279, CITY OF HOPE SYMP. SERIES, VOL. I, GRUNE i STRATTON, N.Y.Google Scholar
  85. 85.
    ANGELMAN, H., BRAIN, M.C., MAC IVER, J.E., 1970, A CASE OF TRIOSEPHOSPHATE ISOMERASE DEFICIENCY WITH SUDDEN DEATH. XIII INTERNATIONAL CONGRESS OF HEMATOLOGY, MUNICH 122 (ABSTRACT)Google Scholar
  86. 86.
    KAPLAN.J.C., SHORE, N., BEUTLER, E., 1968, THE RAPID DETECTION OF TRIOSE PHOSPHATE ISOMERASF DEFICIENCY. AM J CLIN PATHOL 50: 656–658Google Scholar
  87. 87.
    LOWE, M.L., GIN, J.B., 1972, MODIFICATION IN A SCREENING TEST FOR TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. CLIN CHF.M 18:15–51 (LETTER TO THE EDITOR)Google Scholar
  88. 88.
    VALENTINE, W.N., HSIEH, H., PAGLIA, D.E.,, ERSON, H, M., BAUGHAN, M.A., JAFFE, E.R., GARSON, O.M., 1969, HEREDITARY HEMOLYTIC ANEMIA ASSOCIATED WITH PHOSPHOGLYCERATE KINASE DEFICIENCY IN ERYTHROCYTES, LEUKOCYTES. N ENGL J MED 280: 528–534Google Scholar
  89. 89.
    KRAUS, A.P., LANGSTON JR, M.F., LYNCH, B.L., 1968, RED CELL PHOSPHOGLYCERATE KINASE DEFICIENCY. BIOCHEM BIOPHYS RES COMMUN 30: 173–177PubMedCrossRefGoogle Scholar
  90. 90.
    BEUTLER, E., 1969, ELECTROPHORESIS OF PHOSPHOGLYCERATE KINASE. BIOCHEM GENET 3: 189–195PubMedCrossRefGoogle Scholar
  91. 91.
    CHEN, S.-.H., MALCOLM, L.A., YOSHIDA, A., GIBLETT, E.R., 1971, PHOSPHOGLYCERATE KINASE: AN X-L1NKED POLYMORPHISM IN MAN. AM J HUM GENET 23: 87–91PubMedGoogle Scholar
  92. 92.
    KONRAD, P.N., MC CARTHY, D.J., MAUER, A.M., VALENTINE, W.N., PAGLIA, D.E., 1973, ERYTHROCYTE, LEUKOCYTE PHOSPHOGLYCERATE KINASE DEFICIENCY WITH NEUROLOGIC DISEASE. J PEDIATR 82: 456–460PubMedCrossRefGoogle Scholar
  93. 93.
    HJELM, M., WADMAN, B., 1970, NONSPHEROCYTIC HAEMOLYTIC ANAEMIA WITH PHOSPHOGLYCERATE KINASE DEFICIENCY. 13TH INTERNATIONAL CONGRESS HEMATOLOGY, MUNICH, P. 121Google Scholar
  94. 94.
    ARESE, P., BOSIA, A., GALLO, E., MAZZA, U., PFSCARMONA, G.P., 1973, RED CELL GLYCOLYSIS IN A CASE OF 3-PHOSPHOGLYCERATE KINASE DEFICIENCY. FUR J CLIN INVEST 3: 86–92Google Scholar
  95. CARTIER, ?., HABIBI, B., LEROUX, J.P., MARCHAND, J.C., 1971, ANEMIE HEMOLYTIQUE CONGENITALE ASSOCIEF A UN DEFICIT EN PHOSPHOGLYCERATE-KINASE DANS LES GLUBUIF.S ROUGES, LES POLYNUCLEAIRES ET LES LYMPHOCYTES. NOUV REV FR HEMATOL 11: 565–578Google Scholar
  96. 96.
    BOIVIN, P., HAKIM, J., MANDEREAU, J., GAIAND, C., DEGOS, F., SCHAISON, G., 1974, ERYTHROCYTE, LEUCOCYTE 3PHOSPHOGLYCERATE: KINASE DEFICIENCY. STUDIES OF PROPE:RTIE.S OF THE ENZYME, PHAGOCYT1C ACTIVITY OF THE POLYMORPHONUCLEAR LEUCOCYTES, A REVIEW OF THE LITERATURE. NOUV REV FR HEMATOL 14: 49b - 508Google Scholar
  97. 97.
    M1WA, S., NAKASHIMA, K., ODA, S., OGAWA, H., NAGAFUJI, H., ARIMA, M., OKUNA, T., NAKASHIMA, T., 1972, PHOSPHOGLYCERATE KINASE (PGK) DEFICIENCY HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA: REPORT OF A CASE FOUND IN A JAPANESE FAMILY. ACTA HAEMATOL JAP 35: 571–574Google Scholar
  98. 98.
    STRAUSS, R.G., MC CARTHY, D.J., MAUER, A.M., 1974, NEUTROPHIL FUNCTION IN CONGENITAL PHOSPHOGLYCERATE: KINASE: DEFICIENCY. J PEDIATH 85: 341–344Google Scholar
  99. 99.
    BAEHNER, R.L., FEIG, S.A., SEGEL, G.B.,, ERSON, H.N., JAFFE, E.R., 1971, METABOLIC PHAGOCYTIC, BACTEHIOCIDAL PROPERTIES OF PHOSPHOGLYCERATE KINASE DEFICIENT (PGK) POLYMORPHONUCLEAR LEUKOCYTES (PMN). BLOOD 38: 833 ( ABSTRACT)Google Scholar
  100. 100.
    YOSHIDA, A., WATANABE, S., 1972, HUMAN PHOSPHOGLYCERATE KINASE I. CRYSTALLIZATION, CHARACTERIZATION OF NORMAL ENZYME. J BIOL CHEM 247: 440–445PubMedGoogle Scholar
  101. 101.
    YOSHIDA, A., WATANABE, S., CHEN, S.-.H., GIBLFTT, E.R., MALCOLM, L.A., 1972, HUMAN PHOSPHOGLYCERATE KINASE: II. STRUCTURE OF A VARIANT ENZYME. J BIOL CHEM 247: 446–449PubMedGoogle Scholar
  102. 102.
    KAHN, A., COTTREAU, D., GALAND, C., BOIVIN, P., 1976, HUMAN ERYTHROCYTE PHOSPHOGLYCERATE KINASE DEFICIENCY: PRESENCE IN A DEFICIENT PATIENT OF A STABLE: VARIANT WITH LOWERED CATALYTIC ACTIVITY. CLIN CHIM ACTA 69: 21–28PubMedCrossRefGoogle Scholar
  103. 103.
    OSKI, F., WHAUN, J., 1969, HEMOLYTIC ANEMIA, RED CELL GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE 1G-3-PD) DEFICIENCY. CLINICAL RESEARCH 17: 601 (ABSTRACT)Google Scholar
  104. 104.
    PEZNIK, B.I.A., SOROKA, I.U.A., 1972, RARE CASE OF HEREDITARY NONSPHEROCYTIC ANEMIA CAUSED BY GLYCERALDEHYDE-PHOSPHATE DEHYDROGENASE DEFICIENCY IN ERYTHROCYTES. PRORL GEMATOL PERELIV KROVI 17: 53–54Google Scholar
  105. 105.
    HARKNESS, D.R., 1966, A NEW ERYTHROCYTIC ENZYME DEFECT WITH HEMOLYTIC ANEMIA: GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE DEFICIENCY. J LAB CLIN MEP 68:879–880 (ABSTRACT)Google Scholar
  106. 106.
    MC CANN, S.R., FINKEL, B., CADMAN, S., ALLEN, D.W., 1976, STUDY OF A KINDRED WITH HEREDITARY SPHEROCYTOSIS, GLYCERALDEHYDE-3- PHOSPHATE DEHYDROGENASE DEFICIENCY. BLOOD 47: 171–181Google Scholar
  107. 107.
    BOWDLER, A.J., PRANKERD, T.A.J., 1964, STUDIES IN CONGENITAL NON-SPHEROCYTIC HAEMOLYTIC ANAEMIAS WITH SPECIFIC ENZYME DEFECTS. ACTA HAEMATOL 31: 65–78PubMedCrossRefGoogle Scholar
  108. 108.
    ALAGILLE.D., ELEURY, J., ODIEVRE, M., 1964, DEFICIT CONGENITAL EN 2–3-DIPHOSPHOGLYCEROMUTASF:. SOCIETE MEDICALE DES HOPITAUX DE PARIS 115: 493–499Google Scholar
  109. 109.
    LOEHR, G.W., WALLER, H.D., 1963, ZUR BIOCHEMIE EINIGER ANGEBORENER HAEMOLYTISCHEP ANAEMIEN. FOLIA HAEMATOL (LEIPZ) 8: 377–397Google Scholar
  110. 110.
    LELONG, M., FLEURY, J., ALAGILLE.D., MALASSENET, R., LORTHOLARY, P., PARA, M., 1961, L’ANEMIE HEMOLYTIQUE CONSTITUTIONNNELLE NON SPHEROCYTAIRE AVEC PIGMENTURIE. NOUV REV FR HEMATOL 1: 819–831Google Scholar
  111. LOEHR, G.W., 1962, NICHTSPHAEROZYTAERE HAEMOLYTISCHE ANAEMIEN. ERBLICHE STOFFWECHSELKRANKHEITEN LINNEWEH, F. ED. 328–332, URBAN i SCHWARZENBERG, MUNICH/BERLINGoogle Scholar
  112. 112.
    WALLER, H.D., 1962, HEREDITAERE ENZYMOPATHIEN DER ROTEN BLUTKOERPE:RCHEN. PROC 8TH CONG EUROP SOC HAEMATOLGoogle Scholar
  113. 113.
    SCHROETER, W., 1965, KONGENITALE NICHTSPHAEROCYTAERE HAEMOLYTISCHE ANAEMIE BEI 2, 3-DIPHOSPHO- GLYCERATMUTASE- MANGEL DER ERYTHROCYTEN IM FRUEHEN SAUGLINGSALTER. KLIN WOCHENSCHR 43: 1147–1153CrossRefGoogle Scholar
  114. 114.
    CARTIER, P., LABIE, D., LEROUX, J.P., NAJMAN, A., DEMAUGRE, F., 1972, DEFICIT FAMILIAL EN DIPHOSPHOGLYCERATE-MUTASE: ETUDE HEMATOLOGIQUE ET BIOCHIMIQUE. NOUV REV FR HEMATOL 12: 269–288PubMedGoogle Scholar
  115. 115.
    SASAKI, R., IKURA, K., SUGIMOTO, E., CHIBA, H., 1975, PURIFICATION OF BISPHOSPHOGLYCEROMUTASE, 2, 3BISPHOSPHOGLYCERATE PHOSPHATASE, PHOSPHOGLYCEROMUTASE FROM HUMAN ERYTHROCYTES. EUR J BIOCHEM 50: 581–593PubMedCrossRefGoogle Scholar
  116. 116.
    SCHROETER, W., KALINOWSKY, W., 1969, ERYTHROCYTE 2, 3DIPHOSPHOGLYCERATE MUTASE: AN OPTICAL TEST IN HEMOLYSATES. CLIN CHIM ACTA 25: 283–285CrossRefGoogle Scholar
  117. 117.
    JACOBASCH, G., SYLLM-RAPOPORT, I., ROIGAS, H., RAPOPORT, S., 1964, 2, 3-PGASE-MANGEL ALS MOEGLICHE URSACHE ERHOEHTEN ATP-GEHALTES. CLIN CHIM ACTA 10: 477–478Google Scholar
  118. 118.
    ROSE, Z., LIEBOWITZ, J., 1970, 2, 3-DIPHUSPHOGLYCERATE PHOSPHATASE FROM HUMAN ERYTHROCYTES. GENERAL PROPERTIES, ACTIVATION BY ANIONS. J BIOL CHEW 245: 3232–3241Google Scholar
  119. 119.
    STEFANINI, M., 1972, CHRONIC HEMOLYTIC ANEMIA ASSOCIATED WITH ERYTHROCYTE ENOLASE DEFICIENCY EXACERBATED BY INGESTION OF NITROFURANTOIN. AM J CLIN PATHOL 58: 408–414PubMedGoogle Scholar
  120. 120.
    OORT, M., LOOS, J.A., PRINS, H.K., 1961, HEREDITARY ABSENCE OF REDUCED GLUTATHIONE IN THE ERYTHROCYTES–A NEW CLINICAL, BIOCHEMICAL ENTITY!. VOX SANG 6: 370–373PubMedCrossRefGoogle Scholar
  121. 121.
    PRINS, H.K., OORT, M., LOOS, J.A., ZUERCHER, C., BECKERS, T., 1963, HEREDITARY ABSENCE OF GLUTATHIONE IN THE ERYTHROCYTES; BIOCHEMICAL, HAEMATOLOGICAL,, GENETICAL STUDIES. PROC. 9TH CONG. EUROP. SOC. HAEMAT., LISBON PART II/I: 721–728Google Scholar
  122. 122.
    PRINS, H.K., OORT, M., LOOS, J.A., ZUERCHER, C., BECKERS, T., 1966, CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA, ASSOCIATED WITH GLUTATHIONE DEFICIENCY OF THE ERYTHROCYTES. BLOOD 27: 145–166PubMedGoogle Scholar
  123. 123.
    BOIVIN, P., GALAND, C.,, RE, R., DEBRAY, J., 1966, ANEMIES HEMOLYTIGUES CONGENITALES AVEC DEFICIT ISOLE EN GLUTATHION REDOIT PAR DEFICIT EN GLUTATHION SYNTHETASE. NOUV REV FR HEMATOL 6: 859–866Google Scholar
  124. 124.
    MOHLER, D.N., MAJERUS, P.W., MINNICH, V., HESS, C.E., GARHICK, M.D., 1970, GLUTATHIONE SYNTHETASE DEFICIENCY AS A CAUSE OF HEREDITARY HEMOLYTIC DISEASE. N ENGL J MED 283: 1253–1257PubMedCrossRefGoogle Scholar
  125. 125.
    RICHARDS II, F., COOPER, M.R., PEARCE, L.A., COWAN, R.J., SPURR, C.L., 1974, FAMILIAL SPINOCEREBELLAR DEGENERATION, HEMOLYTIC ANEMIA,, GLUTATHIONE DEFICIENCY. ARCH INTERN MED 134: 534–537PubMedCrossRefGoogle Scholar
  126. 126.
    KONRAD, P.N., RICHARDS II, F., VALENTINE, W.N., PAGLIA, D.E., 1972, GAMMA-GLUTAMYL-CYSTEINE SYNTHETASE. DEFICIENCY. N ENGL J MED 286: 557–561PubMedCrossRefGoogle Scholar
  127. 127.
    MARSTEIN, S., JELLUM, E., HALPERN, B., ELDJARN, L., PERRY, T.L.. 1976, BIOCHEMICAL STUDIES OF ERYTHROCYTES IN A PATIENT WITH PYROGLUTAMIC ACIDEMIA (5-OXOPROLINEMIA). N ENGL J MED 295: 406–412CrossRefGoogle Scholar
  128. 128.
    LOEHR, G.W., BAUM, p., KAMM, G., 1963, TOXISCHE HAEMOLYTISCHE ANAEMIEN. MED KLIN 58: 2111–2120PubMedGoogle Scholar
  129. 129.
    ZINKHAM, W.H., LENHARD, R.E., 1959, METABOLIC ABNORMALITIES OF ERYTHROCYTES FROM PATIENTS WITH CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA. J PEDIATR 55: 319–336PubMedCrossRefGoogle Scholar
  130. 130.
    LO, S.S., MARTI, H.R., HITZIG, W.H., 1971, HEMOLYTIC ANEMIA ASSOCIATED WITH DECREASED CONCENTRATION OF REDUCED GLUTATHIONE IN RED CELLS. ACTA HAEMATOL 46: 14–23PubMedCrossRefGoogle Scholar
  131. 131.
    WALLER, H.D., GEROK, W., 1964, SCHWERE STAHLENINDUZIERTE HAEMOLYSE BEI HEREDITAEREM MANGEL AN REDUZIERTEM GLUTATHION IN BLUTZELLEN. KLIN WOCHENSCHR 42: 948–954PubMedCrossRefGoogle Scholar
  132. 132.
    BOIVIN.P., 1968, ANEMIES HEMULYTIOUES CONGENITALES AVEC TROUBLES DU GLUTATHION (A L’EXCLUSION DU DEFICT EN GLUCOSE-6-PHOSPHATE-DEHYDROGENASE). MINERVA PFDIATR 20: 2659–2666Google Scholar
  133. 133.
    BOIVIN.P., GALAND, C., 1965, LA SYNTHESE DU GLUTATHION AU COURS DE L’ANEMIE HEMOLYTIQUE CONGENITALE AVEC DEFICIT EN GLUTATHION REDUIT. DEFICIT CONGENITAL EN GLUTATHIONSYNTHETASE EHYTHROCYTAIRE3. NOUV REV FR HEMATNL 5: 707–720Google Scholar
  134. 134.
    BOIVIN.P., GALAND, C., BERNARD, J.F., 1974, DEFICIENCIES IN G-SH BIOSYNTHESIS. GLUTATHIONE FLOHE, L., BENOEHR, H.C., SIES.H., WALLER, H.D., WENDEL, A. ED. 146–157, ACADEMIC PRESS, INC., NEW YORKGoogle Scholar
  135. 135.
    JELLUM, E., KLUGE, T., BOERRESEN, H.C., STOKKE, O., ELDJARN, L., 1970, PYROGLUTAMIC ACIDURIA–A NEW INBORN ERROR OE’ METABOLISM. SCAND J CLIN LAB INVEST 26: 327–335PubMedCrossRefGoogle Scholar
  136. 136.
    ELDJARN, L., JELLUM, E., STOKKE, O., 1972, PYROGLUTAMIC ACIDURIA: STUDIES ON THE ENZYMIC BLOCK, ON THE METABOLIC ORIGIN OF PYROGLUTAMIC ACID. CLIN CHIM ACTA 40: 461–476PubMedCrossRefGoogle Scholar
  137. 137.
    LARSSON, A., ZETTERSTROEM, R., 1974, PYROGLUTAMIC ACIDURIA (5-OXOPROLINURIA), AN INBORN ERROR IN GLUTATHIONE METABOLISM. PEUTATR RES 8: 852–856CrossRefGoogle Scholar
  138. 138.
    WELLNER, V.P., SEKURA, R., MF.ISTER, A., LARSSON, A., 1974, GLUTATHIONE SYNTHETASE DEFICIENCY, AN INBORN ERROR OF METABOLISM INVOLVING THE GAMMA-GLUTAMYL CYCLE IN PATIENTS WITH 5-OXOPROLINURIA (PYROGLUTAMIC ACIDURIA). PROC NATL ACAD SCI USA 71: 2505–2509PubMedGoogle Scholar
  139. 139.
    HAGENFELDT, L., LARSSON, A., ZETTEFSTROEM, R., 1974, PYROGLUTAMIC ACIDURIA. STUDIES IN AN INFANT WITH CHRONIC METABOLIC ACIDOSIS. ACTA PAEDIATR SCAND 63: 1–8PubMedCrossRefGoogle Scholar
  140. 140.
    SMITH, J.E., LEE, M.S., MIA, A.S., 1973, DECREASED GAMMAGLUTAMYLCYSTEINE SYNTHETASE: THE PROBABLE CAUSE OF GLUTATHIONE DEFICIENCY IN SHEEP ERYTHROCYTES. J LAB CLIN MED 82: 713–718PubMedGoogle Scholar
  141. 141.
    BEUTLER, E., DERN, R.J., FLANAGAN, C.L., ALVING, A.S., 1955, THE HEMOLYTIC EFFECT OF PRIMAOUINE. VII. BIOCHEMICAL STUDIES OF DRUG-SENSITIVE ERYTHROCYTES. J LAB CLIN MED 45: 286–295PubMedGoogle Scholar
  142. 142.
    BEUTLER, E., LANG, A., LEHMANN, H., 1974, HEMOGLOBIN DUARTE: (ALPHA 2 BETA 2 62 ALA PRO): A NEW UNSTABLE HEMOGLOBIN WITH INCREASED OXYGEN AFFINITY. BLOOD 43: 527–535PubMedGoogle Scholar
  143. 143.
    LARSSON, A., ZETTERSTROEM, R., HOERNELL, H., PORATH, U., 1976, ERYTHROCYTE GLUTATHIONE SYNTHETASE IN 5-OXOPROLINUR1A: KINETIC STUDIES OF THE MUTANT ENZYME, DETECTION OF HETEROZYGOTES. CLIN CHIM ACTA 73: 19–23PubMedCrossRefGoogle Scholar
  144. 144.
    PRINS, H.K., LOOS, J.A., ZUERCHER, C., 1968, GLUTATHIONE DEFICIENCY. HEREDITARY DISORDERS OF ERYTHROCYTE METABOLISM BEUTLER, E. ED. 165–184, CITY OF HOPE SYMP. SERIES, VOL. I, GRUNE 6 STRATTON, N.Y.Google Scholar
  145. 145.
    BEUTLER, E., DERN, R.J., ALVING, A.S., 1955, THE HEMOLYTIC EFFECT OF PRIMAOUINE. VI. AN IN VITRO TEST FOR SENSITIVITY OF ERYTHROCYTES TO PRIMAOUINE. J LAB CLIN MED 45: 40–50PubMedGoogle Scholar
  146. 146.
    BEUTLER, E., DURON, O., KELLY, B.M., 1963, IMPROVED METHOD FOR THE DETERMINATION OF BLOOD GLUTATHIONE. J LAB CLIN MED 61: 882–890PubMedGoogle Scholar
  147. 147.
    MINNICH, V., SMITH, M.B., HRAUNER, M.J., MAJFRUS, P.W., 1941, GLUTATHIONE BIOSYNTHESIS IN HUMAN ERYTHROCYTES I. IDENTIFICATION OF THE ENZYMES OF GLUTATHIONE SYNTHESIS IN HEMOLYSATES. J CLIN INVEST 50: 507–513CrossRefGoogle Scholar
  148. 148.
    DESFORGES, J.E., THAYEP, W.W., DAWSON, J.P., 1959, HEMOLYTIC ANEMIA INDUCED BY SULFOXONE THERAPY, WITH INVESTIGATIONS INTO THE MECHANISMS OF ITS PRODUCTION. AM J MED 27: 132–136PubMedCrossRefGoogle Scholar
  149. 149.
    CARSON, P.E., BkEWER, G.J., ICKES, C., 1961, DECREASED GLUTATHIONE REDUCTASE WITH SUSCEPTIBILITY TO HEMOLYSIS. J LAB CLIN MED 58:804 (ABSTRACT)Google Scholar
  150. 150.
    LOEHR, G.W., WALLER, H.D., 1962, EINE NEUE ENZYMOPENISCHE HAEMOLYTISCHE ANAEMIE MIT GLUTATHIONREDUKTASE’-MANGEL. MED KLIN 57: 1521–1525PubMedGoogle Scholar
  151. 151.
    WALLER, H.D., 1968, GLUTATHIONE REDUCTASE DEFICIENCY. HEREDITARY DISORDERS OF ERYTHROCYTE METABOLISM BEUTLER, E. ED. 185–208, CITY OF HOPE SYMP. SERIFS, VOL. I, GRÜNE t STRATTON, N.Y.Google Scholar
  152. 152.
    BLUME.K.G., GOTTWIK, M., LOEHR, G.W., RUEDIGER, H.W., 1968, FAMILIENUNTERSUCHUNGEN ZUM GLUTATHIONRFDUKTASE-MANGEL MENSCHLICHER ERYTHROCYTEN. HUMANGENETIK 6: 163–170Google Scholar
  153. 153.
    BEUTLER, E., 1969, DRUG-INDUCED HEMOLYTIC ANEMIA. PHARMACOL REV 21: 73–103PubMedGoogle Scholar
  154. 154.
    BEUTLER, E., 1969, EFFECT OE FLAVIN COMPOUNDS ON GLUTATHIONE REDUCTASE ACTIVITY: IN VIVO, IN VITRO STUDIES. J CLIN INVEST 48: 1957–1966PubMedCrossRefGoogle Scholar
  155. 155.
    BEUTLER, E., 1969, GLUTATHIONE REDUCTASE: STIMULATION IN NORMAL SUBJECTS BY RIBOFLAVIN SUPPLEMENTATION. SCIENCE 165: 613–615PubMedCrossRefGoogle Scholar
  156. 156.
    BAMJI, M.S., 1969, GLUTATHIONE REDUCTASE ACTIVITY IN RED BLOOD CELLS, RIBOFLAVIN NUTRITIONAL STATUS IN HUMANS. CLIN CHIM ACTA 26: 263–269PubMedCrossRefGoogle Scholar
  157. 157.
    BEUTLER, E., SRIVASTAVA, S.K., 1970, RELATIONSHIP BETWEEN GLUTATHIONE REDUCTASE ACTIVITY, DRUG-INDUCED HAEMOLYTIC ANAEMIA. NATURE 226: 759–760PubMedCrossRefGoogle Scholar
  158. 158.
    SCHROETER, W., 1969, GLUTATHIONE REDUCTASE, RIBOFLAVIN IN HYPOPLASTIC ANEMIA. N ENGL J MED 281: 851–852Google Scholar
  159. 159.
    KLEEBERG, U.R., HEIMPEL, H., KLEIHAUER, E., OLISCHLAEGER, A., 1971, RELATIVER GLUTATHION•UND/ODER PYROVATKINASEMANGEL IN DEN ERYTHROCYTEN BEI PANMYELOPATHIEN UND AKUTEN LEUKAEMIEN. KLIN WOCHENSCHR 49: 557–558PubMedCrossRefGoogle Scholar
  160. 160.
    GOEBEL, K.M., HAUSMANN, L., KAFFARNIK, H., 1971, PANCYTOPEN1A WITH HEMOLYTIC ANEMIA IN GLUTATHIONE REDUCTASF DEFICIENCY. IN VIVO, IN VITRO STUDIES WITH RIBOFLAVIN/FAD ENZYME. ENZYME 12: 375–381Google Scholar
  161. 161.
    GOEBEL, K.M., GOEBEL, F.D., 1972, HEMOLYTIC ANEMIA, PANCYTOPENIA IN GLUTATHIONE REDUCTASF DFFICIFNCY:FURTHER EXPERIENCE WITH RIBOFLAVIN. ACTA HAEMATOL 47: 292–296PubMedCrossRefGoogle Scholar
  162. 162.
    LOEHR.G.W., BLUME, K.G., RUEDIGER, H.W., ARNOLD, H., 1974, GENETIC VARIABILITY IN THE ENZYMATIC REDUCTION OF OXIDIZED GLUTATHIONE, GLUTATHIONE FLOHE, L., BENOEHR, H.C., SIES, H., WALLER, H.D., WENDEL, A. ED. 165–173, ACADEMIC PRESS, NEw YORKGoogle Scholar
  163. 163.
    BENOEHR, H.C., WALLER, H.D., 1970, ACTIVATION OF GLUTATHIONE REDUCTASE WITH FLAVIN ADENINE DINUCLEOTIDE (FAD). 13TH INTERNATIONAL CONGRESS HEMATOLOGY, MUNICH P. 120Google Scholar
  164. 164.
    FLATZ.G.. 1971, POPULATION STUDY OF ERYTHROCYTE GLUTATHIONE REDUCTASE ACTIVITY. II. HEMATOLOGICAL DATA OF SUBJECTS WITH LOW ENZYME ACTIVITY, STIMULATION CHARACTERISTICS IN THEIR FAMILIES. HUMANGENETIK 11: 278–285PubMedCrossRefGoogle Scholar
  165. 165.
    FLATZ, G., 1971, POPULATION STUDY OF ERYTHROCYTE GLUTATHIONE REDUCTASE ACTIVITY. I. STIMULATION OF THE ENZYME By FLAVIN ADENINE DINUCLEOTIDE, BY RIBOFLAVIN SUPPLEMENTATION. HUMANGENETIK 11: 269–277PubMedCrossRefGoogle Scholar
  166. 166.
    LOOS, H., ROOS, D., WEFNING, R., HOUWERZ1JL, J., 1976, FAMILIAL DEFICIENCY OF GLUTATHIONE REDUCTASF: IN HUMAN BLOOD CELLS. BLOOD 48: 53–62Google Scholar
  167. 167.
    BEUTLER, E., MATSUMOTO, F., 1975, ETHNIC VARIATION IN RED CELL GLUTATHIONE PEROXIDASE ACTIVITY. BLOOD 46: 103–110PubMedGoogle Scholar
  168. 168.
    SCOTT, D.L., KELLEHER, J., LOSOWSKY, M.S., 1976, THE EFFECT OF DIETARY SELENIUM, VITAMIN E ON GIUTATHIONE PEROXIDASE, GLUTATHIONE IN THE RAT. BIOCHEM SOC TRANS 4: 295–296Google Scholar
  169. 169.
    SMITH, P.J., TAPPEL, A.L., CHOW, C.F., 1974, GLUTATHIONE PEROXIDASE ACTIVITY AS A FUNCTION OF DIETARY SELENOMETHIONINE. NATURE 247: 392–393PubMedCrossRefGoogle Scholar
  170. 170.
    CELLERINO, R., GUIDI, G., PERONA, G., 1976, PLASMA IRON, ERYTHROCYTIC GLUTATH1ONE PEROXIDASE: ACTIVITY. A POSSIBLE MECHANISM FOR OXIDATIVE HAEMOLYSIS IN IRON DEFICIENCY ANAEMIA. SCAND J HAEMATOL 17: 111–116PubMedCrossRefGoogle Scholar
  171. 171.
    RODVIEN, R., GILLUM, A., WEINTRAUB, L.R., 1974, DECREASED GLUTATHIONE PEROXIDASE ACTIVITY SECONDARY TO SEVERE IRON DEFICIENCY: A POSSIBLE MECHANISM RESPONSIBLE FOR THE SHORTENED LIFE SPAN OF THE IRON-DEFICIENT RED CELL. BLOOD 43: 281–289Google Scholar
  172. 172.
    MAC DOUGALL, L., 1972, RED CELL METABOLISM IN IRON DEFICIENCY ANEMIA. III. THE RELATIONSHIP BETWEEN GLUTATHIONE: PEROXIDASE, CATALASE, SERUM VITAMIN F,, SUSCEPTIBILITY OF IRON-DEFICIENT RED CELLS TO OXIDATIVE HEMOLYSIS. J PEDIATR 80: 775–782CrossRefGoogle Scholar
  173. 173.
    BEUTLER, E., MATSUMOTO, F., POWARS, D., WARNFR, J., 1977, INCREASED GLUTATHIONE PEROXIDASE ACTIVITY IN ALPHATHALASSEMIA. BLOOD 50: 647–655PubMedGoogle Scholar
  174. 174.
    BEUTLER, E., 1977, GLUCOSE-6-PHOSPHA1E DFHYDROGENASE DEFICIENCY, RED CELL GLUTATHIONE PEROXIDASE. BLOOD 49: 467–469PubMedGoogle Scholar
  175. 175.
    GROSS, R.T., BRACCI, R., RUDOLPH, N., SCHROEDER, E., KOCHEN, J.A., 1967, HYDROGEN PEROXIDE TOXICITY, DETOXIFICATION IN THE ERYTHROCYTES OF NEW-BORN INFANTS. BLOOD 29: 481–493PubMedGoogle Scholar
  176. 176.
    BEUTLER, E., WEST, C., BEUTLER, B., 1974, ELECTROPHORETIC POLYMORPHISM OF GLUTATHIONE PEROXIDASE. ANN HUM GENET 38: 163–169PubMedCrossRefGoogle Scholar
  177. 177.
    NECHELES, T.F., BOLES, T.A., ALLEN, D.M., 1968, ERYTHROCYTE GLUTATHIONE-PEROXIDASE DEFICIENCY, HEMOLYTIC DISEASE OF THE NEWBORN INFANT. J PEDIATR 72: 319–324CrossRefGoogle Scholar
  178. 178.
    WHAUN, J.M., OSKI, F.A., 1970, RELATION OF RED BLOOD CELL GLUTATHIONE PEROXIDASE TO NEONATAL JAUNDICE. J PEDIATR 76: 555–560PubMedCrossRefGoogle Scholar
  179. 179.
    NECHELES, T.F., STEINBERG, M.H., CAMEPON, D., 1970, ERYTHROCYTE GLUTATHIONE-PEROXIDASE DEFICIENCY. BR J HAEMATOL 19: 605–612PubMedCrossRefGoogle Scholar
  180. 180.
    MIWA, S., NAKASHIMA, K., ARIYOSHI, K., UEMUPA, M., MURASHIMA, N., EMI.I., 1974, HETEROZYGOUS ERYTHROCYTE GLUTATHIONE PEROXIDASE DEFICIENCY ASSOCIATED WITH NEONATAL HYPERBILIRUBINEMIA FOUND IN A JAPANESE FAMILY. ACTA HAEMATOL JAP 37: 266–270Google Scholar
  181. BOIVIN, P., GALAND, C., HAKIM, J., BLERY, M., 1970, DEFICIT EN GLUTATHION-PEROXYDASE ERYTHROCYTAIRF ET ANF:MIE HEMOLYTIQUE MEDICAMENTEUSE. UNE NOUVELLE OBSERVATION. LA PRESSE MEDICALE 78:171–178Google Scholar
  182. 182.
    STEINBERG, M., BRAUER, M.J., NECHELES, T.F., 1970, ACUTE HEMOLYTIC ANEMIA ASSOCIATED WITH ERYTHROCYTE GLUTATHIONEPEROXIDASE DEFICIENCY. ARCH INTERN MED 125: 302–303PubMedCrossRefGoogle Scholar
  183. 183.
    BOIVIN, p., GALAND, C., HAKIM, J., ROGE, J., GUFROULT, N., 1969, ANEMIE HEMOLYTIOUE AVEC DEFICIT EN GLUTATHION-PEROXYDASE CHEZ UN ADULTE. ENZYME 10: 68–80Google Scholar
  184. 184.
    TURSZ, T., BERNARD, J.-.F., VERDIER, F., HOIVIN, P., 1974, SULFHEMOGLOBINE ET DEFICIT EN GLUTATHION PEROXYDASE. NOUV PRESSE MED 3: 1487–1490PubMedGoogle Scholar
  185. 185.
    GHARIB, H., FAIRBANKS, V.F., BARTHOLOMEW, L.G., 1969, HEPATIC FAILURE WITH ACANTHOCYTOSIS: ASSOCIATION WITH HEMOLYTIC ANEMIA, DEFICIENCY OF ERYTHROCYTE GLUTATHIONE PEROXIDASE. MAYO CLIN PROC 44: 96–101PubMedGoogle Scholar
  186. 186.
    LAUSECKER, C., HEIDT, P., FISCHER, D., HARTLEYB, H., LOEHR, G.W., 1965, ANEMIE HEMOLYTIOUE CONSTITUTIONNELLE AVEC DEFICIT EN 6-PHOSPHO-GLUCONATE- DESITYDROGENASE. ARCH FR PEDIATR 21: 789–797Google Scholar
  187. 187.
    PARR, C.W., FITCH, L.I., 1967, INHERITED QUANTITATIVE VARIATIONS OF HUMAN PHOSPHOGLUCUNATE. DFHYDROGF:NASE. ANN HUM GENET 30: 339–353PubMedCrossRefGoogle Scholar
  188. 188.
    DERN, R.J., BREWER, G.J., TASHIAN, R.E., SHOWS, T.B., 1966, HEREDITARY VARIATION OF ERYTHROCYTIC 6-PHOSPHOGLUCONATE DEHYDROGENASE. J LAB CLIN MED 67: 255–264PubMedGoogle Scholar
  189. 189.
    HARVALD, B., HANEL, K.H., SQUIRES, R., TRAP-JENSEN, J., 1964, ADENOSINE-TRIPHOSPHATASE DEFICIENCY IN PATIENTS WITH NON-SPHEROCYTIC HAEMOLYTIC ANAEMIA. LANCET 2: 18–19PubMedCrossRefGoogle Scholar
  190. 190.
    COTTE, J., KISSIN, C., MATHIEU, M., PONCET, J., MONNET, P., SALLE, B., GERMAIN, D.; 1968, OBSERVATIONS ON A CASE OF PARTIAL DEFICIENCY OF ERYTHROCYTIC ATPASE. REV FRANC ETUDE CLIN BIOL 13: 284Google Scholar
  191. 191.
    LOEHR, G.W., 1969, GENETISCHE ENZYMDEFEKTE DER HEXOKINASE UND DER TRANSPORT-ADENOSIN- TRIPHOSPHAT-PHOSPHOHYDROLASE DER ERYTHRUZYTEN. FOLIA HAEMATOL (LF:IPZ) 91: 28–38Google Scholar
  192. 192.
    HANEL, H.K., COHN, J., HARVALD, H., 1971, ADENOSINETRIPHOSPHATASE DEFICIENCY IN A FAMILY WITH NON SPHEROCYTIC HAEMOLYTIC ANEMIA. HUM HERED 21: 313–319PubMedCrossRefGoogle Scholar
  193. 193.
    GOTTFRIED, E.L., MILLER, D.R., 1975, DECREASED ATPASE ACTIVITY IN HEREDITARY HEMOLYTIC ANEMIA WITH INCREASED MEMBRANE PHOSPHATIDYLCHOLINE. AMERICAN SOCIETY OF HEMATOLOGY 18TH ANNUAL MEETING (ABSTRACT •183)Google Scholar
  194. 194.
    FEIG, S.A., GUIDOTTI, G., 1974, RELATIVE DEFICIENCY OF CA2I-DEPENDENT ADENOSINE TRIPHOSPHATASE ACTIVITY OF RED CELL MEMBRANES IN HEREDITARY SPHEROCYTOSIS. RIOCHEM BIOPHYS RES COMMUN 58: 487–494CrossRefGoogle Scholar
  195. 195.
    KIRKPATRICK, F.H., WOODS, G.M., LA CEILE, P.L., 1975, ABSENCE OF ONE COMPONENT OF SPECTRIN ADENOSINE TRIPHOSPHATASF. IN HEREDITARY SPHEROCYTOSIS. BLOOD 46: 945–954PubMedGoogle Scholar
  196. 196.
    NAKAO, K., KUHASHINA, S., NAKAO, M., 1967, ADENOSINETR1PHOSPHATASE ACTIVITY OF ERYTHROCYTE MEMBRANE IN HEREDITARY SPHEROCYTOSIS. LIFE SCI 6: 595–600PubMedCrossRefGoogle Scholar
  197. 197.
    SZEINBERG, A., GAVENDO, S., CAHANE, D., 1969, ERYTHROCYTE ADENYLATE-KINASE: DEFICIENCY. LANCET 1: 315–316PubMedCrossRefGoogle Scholar
  198. 198.
    SZEINBERG, A., KAHANA, D., GAVENDO.S., ZAIDMAN, J., BEN-EZZER, J., 1969, HEREDITARY DEFICIENCY OF ADENYLATE KINASE IN RED BLOOD CELLS. ACTA HAEMATOL 42: 111–126Google Scholar
  199. BOIVIN, P., GALAND, C., HAKIM, J., SIMONY, D., SELIGMAN, M., 1970, DEFICIT CONGENITAL EN ADENYLATE-KINASE FRYTHROCYTAIRE. LA PRESSE MEDICALE 78:1443Google Scholar
  200. BOIVIN, P., GALAND, C., HAKIM, J., SIMONY, D., SELIGMAN, M., 1971, ANEMIE HEMOLYTIQUE CONGENITALE. NON SPHFROCYTAIRE ET DEFICIT HEREDITAIRE EN ADENYLATE-KINASE ERYTHROCYTAIRE. LA PRESSE MEDICALE 79:215–218Google Scholar
  201. 201.
    BREWER, G.J., 1965, A NEW INHERITED ABNORMALITY OF HUMAN ERYTHROCYTES–ELEVATED ERYTHROCYTIC ADENOSINE: TRIPHOSPHATE. BIOCHEM BIOPHYS RES COMMUN 18: 430–434PubMedCrossRefGoogle Scholar
  202. 202.
    ZUERCHER, C., LOOS, J.A., PRINS, H.K., 1965, HEREDITARY HIGH ATP CONTENI OF HUMAN ERYTHROCYTES. PROC 10TH CONGR INT SOC BLOOD TRANSE, STOCKHOLM 549–556Google Scholar
  203. 203.
    OELSHLEGEL, F.J., SANDER, H.J., BREWER, G.J., 1975, POLE OF IN VIVO PYRUVATE KINASE ACTIVITY: A. INHERITANCE OF ELEVATED RED CELL ATP LEVELS H. RED CELL MALARIAL PARASITE INTERACTIONS. PROG CLIN BIOL PETS 1: 199–218Google Scholar
  204. 204.
    BUSCH, D., 1970, UFBERHUHTER ERYTHROCYTEN-ATP-SPIEGEL-MERKMAL EINER HEREDITAEREN NICHTSPHAERO CYTAETEN HAEMOLYTISCHEN ANAMIF: BEI GESTUERTER ATP-UTILISATION UND EINF:P STUFFWFCHSELANOMALIE ROTER ZEILEN OHNE KRANKHEITSWERT. KL1N wOCHENSCHR 48: 543–550CrossRefGoogle Scholar
  205. 205.
    BEUTLER, E., MA1SUMOTO, F., 1975, UNPUBLISHEDGoogle Scholar
  206. 206.
    VALENTINE, W.N.,, ERSON, H.M., PAGIIA, D.E., JAF’FF, E.R., KONRAD, P.N., HARRIS, S.R., 1972, STUDIES ON HUMAN ERYTHROCYTE NUCLEOTIDE METABOLISM. H. NONSPHERDCYTIC HEMOLYTIC ANEMIA, HIGH RED CELL ATP, RIHOSEPHOSPHATE PYROPHOSPHOKINASE (RPK, E.C. 2.7.6.1) DEFICIENCY. BLOOD 39: 675–684Google Scholar
  207. 207.
    VALENTINE, W.N., BENNETT, J.M., KRIVIT, W., KUNRAD, P.N., LOWMAN, J.T., PAGLIA, D.E., WAKEM, C.J., 1973, NONSPHEROCYTIC HAEMOLYTIC ANAEMIA WITH INCREASED RED CELL ADENINEGoogle Scholar
  208. NUCLEOTIDES, GLUTATHIONE, BASOPHILIC STIPPLING, RIHOSEPHOSPHATE PYROPHOSPHOKINASE (PPK) DEFICIENCY: STUDIES ON TWO NEW KINDRE:DS. BR J HAEmATOL 24:157–167Google Scholar
  209. 208.
    VALENTINE, W.N., F1NK, K., PAGLIA, D.E.., HAPRIS, S.R., ADAMS, W.S., 1974, HEREDITARY HEMOLYTIC ANEMIA WITH HUMAN ERYTHROCYTE PYRIMIDINE: 5’- NUCLEDTIDASE DEFICIENCY. J CLIN INVEST 54: 866–879Google Scholar
  210. 209.
    VIVES-CORRDNS, J.L., MONTSERRAT-COSTA, F., ROZMAN, C., 1976, HEREDITARY HEMOLYTIC ANEMIA WITH ERYTHROCYTE PYRIMIDINE 5’-NUCIEOTIDASE DEFICIENCY IN SPAIN. HUM GENET 34: 285–292CrossRefGoogle Scholar
  211. 210.
    BEN-BASSAT, I., BROK-SIMONI, F., KENDE, G., HOLTZMANN, F., RAMOT, B., 1976, A FAMILY WITH RED CELL PYRIMIDINE 5’NUCLEOTIDASE DEFICIENCY. BLOOD 47: 919–922Google Scholar
  212. 211.
    ODA, S., TANAKA, K.R., 1976, METABOLIC STUDIES IN ERYTHROCYTE PRIMIDINE 5’-NUCLEOTIDASE DEFICIENCY. CIINICAL RESEARCH 24: 149AGoogle Scholar
  213. 212.
    ROCHANT, H., DREYEUS, B., ROSA, R., BOIRON, M., 1975, FIRST CASE OF PYRIMIDINE. 5’NUCLEOTIDASF DEFICIENCY IN A MALE. 3RD MEETING OF THE EUROPEAN, AFRICAN DIV (INT SUC HAEMATOL) LONDON, AUGUST 1975 VOL. 1, ABSTRACT, 1: 19Google Scholar
  214. 213.
    MIWA, S., NAKASHIMA, K., FUJII, H., MATSUMOTD, M., NOMURA, K., 1977, THREE CASES OF HEREDITARY HEMOLYTIC ANEMIA WITH PYRIMIDINE 5’ NUCL.EOTIDASE DEFICIENCY IN A JAPANESE: FAMILY. HUM GENET 37: 361–364PubMedCrossRefGoogle Scholar
  215. 214.
    SELBY, G., BEUTLER.E., 1975, PERSONAL COMMUNICATIONGoogle Scholar
  216. 215.
    KATZ, J., 1976, PERSONAL COMMUNICATIONGoogle Scholar
  217. 216.
    TORRANCE, J.D., KARABUS, C., SHNIER, M., MELTZER, M., KATZ, J., JENKINS, T., 1977, HAEMOLYTIC ANAEMIA DUE TO RED CELL PYRIMIDINE 5’ NUCLEOTIDASF DEFICIENCY: FIRST SOUTH AFRICAN FAMILY. UNPUBLISHEDGoogle Scholar
  218. 217.
    PAGLIA, D.E., VALENTINE, W.N., DAHLGREN, J.G., 1975, EFFECTS OF LOW-LEVEL LEAD EXPOSURE ON PYRIMIDINE; 5’-NUCLEOTIDASE, OTHER ERYTHROCYTE ENZYMES. J CLIN INVEST 56: 1164–1169PubMedCrossRefGoogle Scholar
  219. 218.
    VALENTINE, W.N., PAGLIA, D.E., EINK, K., MADOKORO, G., 1976, LEAD POISONING. ASSOCIATION WITH HEMOLYTIC ANEMIA, BASOPHILIC STIPPLING, ERYTHROCYTE PYRIMIDINE 5’-NUCLEOTIDASE DEFICIENCY,, INTRAERYTHROCYTIC ACCUMULATION OF PYRIMIDINES. J CLIN INVEST 58: 926–932PubMedCrossRefGoogle Scholar
  220. 219.
    HAAS, E., 1943, CYTOCHROME OXIDASE. J BIOL CHEM 148: 481–493Google Scholar
  221. 220.
    HIRSCHHORN, R., HIRSCHHORN, K., WEISSMANN, G., 1967, APPEARANCE OF HYDROLASE RICH GRANULES IN HUMAN LYMPHOCYTES INDUCED BY PHYTOHEMAGGLUTININ, ANTIGENS. BLOOD 30: 84–102PubMedGoogle Scholar
  222. 221.
    WHITE, J.M., SELHI, H.S., 1975, LEAD, THE RED CELL. BR J HAEMATOL 30: 133–138PubMedCrossRefGoogle Scholar
  223. 222.
    ODA, S., TANAKA, K;R., 1976, ERYTHROCYTE PYRIMIDINE 5’NUCLEOTIDASE DEFICIENCY: METABOLIC STUDIES. 16TH CONGRESS INTERNATIONAL SOCIETY OF HEMATOLOGY, KYOTO ABSTRACT 2–69Google Scholar
  224. 223.
    GIBLETT, E.R.,, EFSON, J.E., COHEN, F., POLLARA, B., MEUWISSEN.H.J., 1972, ADENOSINE DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITY. LANCET 2: 1067–1069Google Scholar
  225. 224.
    VALENTINE, W.N., PAGLIA, D.E., TARTAGLIA, A.P., GILSANZ, F., 1977, HEREDITARY HEMOLYTIC ANEMIA WITH INCREASED RED CELL ADENOSINE DEAMINASE (45-TO 70-FOLD), DECREASED ADENOSINE TRIPHOSPHATE. SCIENCE 195: 783–785PubMedCrossRefGoogle Scholar
  226. 225.
    ROSA, R., NAJEAN, Y., PREHU, M., BEUZARD, Y., ROSA, J., 1977, TOTAL DEFICIENCY OF RED CELL DIPHOSPHOGLYCERATE MUTASE (DPGM). BLOOD 50: (SUPPL. 1) 84Google Scholar

Copyright information

© Plenum Publishing Corporation 1978

Authors and Affiliations

  • Ernest Beutler
    • 1
  1. 1.City of Hope National Medical CenterDuarteUSA

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