Skip to main content

Neurometabolische Krankheiten

  • Chapter
Kinderpathologie
  • 20 Accesses

Zusammenfassung

Neurometabolische Krankheiten bedeuten Schädigungen des Zentralnervensystems bei abnormem Stoffwechsel. Zum Teil spielt sich bei diesen Krankheiten der pathologische Prozeß einzig oder hauptsächlich im Nervensystem ab. Beim Großteil der hierhergehörenden Krankheiten ist der Befall des Nervensystems jedoch nur eine Teilmanifestation einer generalisierten metabolischen Störung. Dieses Kapitel soll auf jene Krankheiten beschränkt bleiben, die lichtmikroskopischer Diagnostik, hauptsächlich an Biopsiematerial, zugänglich sind. Die mikroskopische Untersuchung bei metabolischen Leiden ist indessen selten diagnostisch genügend. Die morphologischen Veränderungen müssen so oft wie möglich mit biochemischen Befunden verglichen werden.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 69.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

Allgemeines

  • Adams, C. W. M. (Hrsg.): Neurohistochemistry. Amsterdam: Elsevier 1965.

    Google Scholar 

  • Allan, J. D., Raine, D. N. (Hrsg.): Some Inherited Disorders of Brain and Muscle. Edinburgh: Livingstone 1969.

    Google Scholar 

  • Bernsohn, J., Grossman, H. J. (Hrsg.): Lipid storage Diseases. Enzymatic defects and clinical implications. New York: Academic Press 1971.

    Google Scholar 

  • Brady, R. O.: Cerebral lipidoses. Ann. Rev. Med. 21, 317 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Crocker, A. C.: Comparison of the biology of Niemann-Pick disease and of Hurler’s disease. In Lipid Storage Diseases (Hrsg. J. Bernsohn & H. J. Grossman), S. 27. New York; Academic Press, 1971.

    Google Scholar 

  • Crome, L. C., Stern, J.: Pathology of Mental Retardation. 2. Aufl. 544 S. London: Churchill, 1972.

    Google Scholar 

  • Freeman, J. M., McKhann, G. M.: Degenerative disease of the central nervous system. Advance in Pediatrics, vol. 16, S. 127, Year Book Publ., 1969.

    Google Scholar 

  • Hagberg, B.: Neurometabolische Krankheiten. In Lehrbuch der Neurologie (Hrsg. Matthes, A. & Kruse, R.). Stuttgart: Thieme, 1971.

    Google Scholar 

  • Jatzkewitz, H.: Cerebral sphingolipidoses as inborn errors of metabolism. In Some Inherited Disorders of Brain and Muscle (Hrsg. Allan & Raine), S. 114, Edinburgh: E. & S. Livingstone, 1969.

    Google Scholar 

  • Menkes, J. H., Andrews, J. M., Cancilla, P. A.: The cerebroretinal degenerations. J. Pediat. 79, 183 (1971).

    Article  PubMed  CAS  Google Scholar 

  • Milunsky, A., Littlefield, J. W., Kanfer, J. N., Kolodny, E. H., Shih, V. E., Atkins, L.: Prenatal genetic diagnosis. New Engl. J. Med. 283, 1370–1381, 1441–1447, 1798–1504 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Raine, D. N.: Biochemical classification of the sphingolipidoses. In Some Inherited Disorders of Brain and Muscle (Hrsg. Allan & Raine), S. 89, Edinburgh: E. & S. Livingstone, 1969.

    Google Scholar 

  • Résibois, A., Tondeur, M., Mockel, S., Dustin, P.: Lysosomes and storage disease. In International Review of Experimental Pathology (Hrsg. Richter & Epstein), vol. 9, S. 93 New York: Academic Press, 1970.

    Google Scholar 

  • Svennerholm, L.: New principles for the classification of glycolipidoses. Relazione svolta al XIII Congresso della Società Italiana per lo studio del metabolismo normale e patologico, Milano, 5–6 Ottobre 1968. Metabolismo 5, 61 (1969).

    Google Scholar 

  • Symposium on Cerebral Lipidoses. Coimbra-Curia, 8th-15th July, 1967. Path. Europ. 3, 121 (1968).

    Google Scholar 

  • Vinken, P. J., Bruyn, G. W. (Hrsg.); Leukodystrophies and poliodystrophies. In Handbook of Clinical Neurology, vol. 10. Amsterdam: North-Holland, 1970.

    Google Scholar 

  • Vinken, P. J., Bruyn, G. W. (Hrsg.): Neuroretinal degenerations and phacomatoses. In Handbook of Clinical Neurology, vol. 13. Amsterdam; North-Holland, 1970.

    Google Scholar 

  • Volk, B. W., Aronson, S. M. (Hrsg.): Sphingolipids, Sphingolipidoses and Allied Disorders. Proc. of the Symposium on Sphingolipidoses and Allied Disorders held in Brooklyn, New York, October 25–27, 1971. Advances in Experimental Medicine and Biology, vol. 19. New York; Plenum Press, 1972.

    Google Scholar 

  • Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten’s disease): Relationship to amaurotic family idiocy? Pediatrics 44, 570 (1969).

    PubMed  CAS  Google Scholar 

Alexandersche Krankheit

  • Friede, R. L.: Alexander’s disease. Arch. Neurol. (Chic.) 11, 414 (1964).

    CAS  Google Scholar 

  • Herndon, R. M., Rubinstein, L. J., Freeman, J. M.: Light and electron microscopic observations on Rosenthal fibers in Alexander’s disease and in multiple sclerosis. J. Neuropath. exp. Neurol. XXIX, 524 (1970).

    Article  Google Scholar 

  • Schochet, S. S., Jr., Lampert, P. W., Earle, K. M.: Alexander’s disease. Neurology (Minneap.) 18, 543 (1968).

    Google Scholar 

  • Sherwin, R. M., Bethrong, M.: Alexander’s disease with sudanophilic leukodystrophy. Arch. Path. 89, 321 (1970).

    PubMed  CAS  Google Scholar 

Aminoazidopathien

  • Crome, L. C., Stern, J.: Aminoacidurias. In Pathology of Mental Retardation. S. 260. London; Churchill, 1967.

    Google Scholar 

  • Efron, Mary L., Ampola, Mary G.: The aminoacidurias. Pediat. Clin. N. Amer. 14, 881 (1967).

    PubMed  CAS  Google Scholar 

  • Holtzman, N. A.: Dietary treatment of inborn error of metabolism. Ann. Rev. Med. 21, 335 (1970).

    Article  PubMed  CAS  Google Scholar 

Ceramidosen

  • Dawson, G., Stein, A. O.: Lactosyl ceramidosis: Catabolic enzyme defect of glycosphingolipid metabolism. Science 170, 556 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Dawson, G., Matalon, R., Stein, A. O.: Lacto-sylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts. J. Pediat. 79, 423 (1971).

    Article  PubMed  CAS  Google Scholar 

Fabrysche Krankheit

  • Christensen Lou, H. A., Reske-Nielsen, E.: The central nervous system in Fabry’s disease. Arch. Neurol. (Chic.) 25, 351 (1971).

    Google Scholar 

  • Desnick, R. J., Sweeley, C. C., Krivit, W.: A method for the quantitative determination of neutral glycosphingolipids in urine sediment. J. Lipid Res. 11, 31 (1970).

    PubMed  CAS  Google Scholar 

  • Kint, J. A.: Fabry’s disease: Alpha-galactosidase deficiency. Science 167, 1268 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Philippart, M., Sarlieve, L., Mancorda, A.: Urinary glycolipids in Fabry’s disease. Their examination in the detection of atypical variants and the pre-symptomatic state. Pediatrics 43, 201 (1969).

    PubMed  CAS  Google Scholar 

Gangliosidosen

  • Adachi, M., Torii, J., Schneck, L., Volk, B. W.: The fine structure of fetal Tay-Sachs disease. Arch. Path. 91, 48 (1971).

    PubMed  CAS  Google Scholar 

  • Brown, N. J., Corner, B. D., Dodgson, M. C. H.: A second case in the same family of congenital familial cerebral lipidosis resembling amaurotic family idiocy. Arch. Dis. Childh. 29, 48 (1954).

    Article  PubMed  CAS  Google Scholar 

  • Eeg-Olofsson, OI., Kristensson, K., Sourander, P., Svennerholm, L.: Tay-Sachs disease. A generalized metabolic disorder. Acta pae-diat. scand. 55, 546 (1966).

    Article  CAS  Google Scholar 

  • Hagberg, B., Hultquist, G., Oehman, R., Svennerholm, L.: Congenital amaurotic idiocy. Acta paediat. scand. 54, 116 (1965).

    Article  PubMed  CAS  Google Scholar 

  • Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Lahey, M. E., Chadwick, D. L.: Familial neurovisceral lipidosis. Amer. J. Dis. Child. 108, 503 (1964).

    PubMed  CAS  Google Scholar 

  • O’Brien, J. S.: Generalized gangliosidosis. J. Pediat. 75, 167 (1969).

    Article  PubMed  Google Scholar 

  • O’Brien, J. S., Okada, S., Ho, W. M., Fillerup, D. L., Veath, M. L., Adams, K.: Ganglioside storage diseases. In Lipid Storage Diseases (Hrsg. Bernsohn, J. & Grossman, H. J.) S. 225, New York; Academic Press 1971.

    Google Scholar 

  • Oehman, R., Ekelund, H., Svennerholm, L.: The diagnosis of Tay-Sachs disease. Acta paediat. scand. 60, 399 (1971).

    Article  Google Scholar 

  • Okada, S., O’Brien, J. S.: Tay-Sachs disease: Generalized absence of a beta-D-N-acetyl-hexosidaminidase component. Science 165, 698 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Pfeiffer, R. A., Diekmann, L., Wierich, W., Bassewitz, D. B. v., Jünemann, G., Damaske, E., Werries, E., Wässle, K.: Klinische, pathologische und biochemische Untersuchungen in einem Fall von infantiler generalisierter Gangliosidose (GM1-Mucolipidose). Z. Kinderheilk. 112, 23 (1972).

    Article  PubMed  CAS  Google Scholar 

  • Schneck, L., Adachi, M., Volk, B. W.: The fetal aspects of Tay-Sachs disease. Pediatrics 49, 342 (1972).

    PubMed  CAS  Google Scholar 

  • Singer, H. S., Nankervis, G. A., Schsfer, I. A.: Leucocyte beta-galactosidase activity in the diagnosis of generalized GM1-gangliosidosis. Pediatrics 49, 352 (1972).

    PubMed  CAS  Google Scholar 

  • Suzuki, K., Suzuki, K., Chen, G. C.: GM1 gangliosidosis (generalized gangliosidosis). Morphology and chemical pathology. Path. europ. 3, 389 (1968).

    CAS  Google Scholar 

  • Suzuki, Y., Berman, P. H., Suzuki, K.: Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leucocytes. J. Pediat. 78, 643 (1971).

    Article  PubMed  CAS  Google Scholar 

  • Terry, R. D.: The lipid storage body. Some morphologic aspects of the lipidoses. In Lipid Storage Diseases (Hrsg. Bernsohn, J. & Grossman, H. J.), S. 3, New York; Academic Press 1971.

    Google Scholar 

  • Thiemann, H., Diekmann, I., Bassewitz, D. V. v.: Die Feinstruktur der menschlichen Leber bei generalisierter Gangliosidose GM1. Beitr. path. Anat. 140, 194 (1970).

    Google Scholar 

  • Thomas, G. H.: Beta-D-galactosidase in human urine: Deficiency in generalized gangliosidosis. J. Lab. clin. Med. 74, 725 (1969).

    PubMed  CAS  Google Scholar 

Glykogenose

  • Field, R. A.: Glycogen deposition diseases. In The Metabolic Bases of Inherited Disease (Hrsg. Stanbury et al.), S. 141. New York; McGraw-Hill 1966.

    Google Scholar 

  • Gambetti, P.: Nervous system in Pompe’s disease. J. Neuropath, exp. Neurol. 30, 412 (1971).

    Article  CAS  Google Scholar 

  • Hirschhorn, K., Nadler, H. L., Waithe, W. I., Brown, B. I., Hirschhorn, R.: Pompe’s disease: detection of heterozygotes by lymphocyte stimulation. Science 166, 1632 (1969).

    Article  PubMed  CAS  Google Scholar 

Hirnbiopsie

  • Andrews, J. M., Cancilla, P. A.: Cytoplasmic inclusions in human globoid cell leukodystrophy. Krabbe’s disease. Arch. Path. 89, 53 (1970).

    PubMed  CAS  Google Scholar 

  • Biemond, A.: Indications. Legal and moral aspects of cerebral biopsies. In Fifth International Congress of Neuropathology, Proceedings, S. 372. New York; Excerpta Medica 1966.

    Google Scholar 

  • Moller, J. E.: Diagnostic value of cortex biopsy. Scandinavian Society of Paediatric Pathology, Proceedings, Acta paediat. scand. 59, 108 (1970).

    Google Scholar 

  • Shuter, E. R., Robins, E., Freeman, M. L., Jungalwala, F. B.: Beta-hexosaminidase in the nervous system: The quantitative histochemistry of beta-galactosaminidase in the cerebellar cortex and subjacent matter. Acta Histochem. Cytochem. 18, 271 (1970).

    Article  CAS  Google Scholar 

Krabbesche Krankheit

  • Andrews, J. M., Cancilla, P. A.: Cytoplasmic inclusions in human globoid cell leukodystrophy. Arch. Path. 89, 53 (1970).

    PubMed  CAS  Google Scholar 

  • Eto, Y., Suzuki, K., Suzuki, K.: Globoid cell leukodystrophy (Krabbe’s disease): Isolation of myelin with normal glycolipid composition. J. Lipid Res. 11, 473 (1970).

    PubMed  CAS  Google Scholar 

  • Hagberg, B., Kollberg, H., Sourander, P., Åkesson, H. O.: Infantile globoid cell leukodystrophy (Krabbe’s disease). A clinical and genetic study of 32 Swedish cases 1953–1967. Neuropädiatrie 1, 74 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Suzuki, K., Suzuki, Y., Eto, Y.: Deficiency of galactocerebroside B-galactosidase in Krabbe’s globoid cell leukodystrophy. In Lipid Storage Diseases (Hrsg. Bernsohn, J. & Grossman, H. J.), S. 111. New York; Academic Press 1971.

    Google Scholar 

  • Suzuki, Y., Suzuki, K.: Krabbe’s globoid cell leukodystrophy: Deficiency of galactocerebrosidase in serum, leucocytes, and fibroblasts. Science 171, 73 (1971).

    Article  PubMed  CAS  Google Scholar 

Leighsche nekrotisierende Enzephalopathie

  • Dayan, A. D., Ockenden, B. G., Crome, L.: Necrotizing encephalopathy of Leigh. Neuropathological findings in 8 cases. Arch. Dis. Childh. 45, 39 (1970).

    Article  PubMed  CAS  Google Scholar 

Lesch-Nyhansche Krankheit

  • Boyle, J. A., Raivio, K. O., Astrin, K. H., Schulman, J. D., Graf, M. L., Seegmiller, J. E., Jacobsen, C. B.: Lesch-Nyhan syndrome: Preventive control by prenatal diagnosis. Science 169, 688 (1970).

    Article  PubMed  CAS  Google Scholar 

  • Newcombe, D. S.: The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome. Pediatrics 46, 508 (1970).

    PubMed  CAS  Google Scholar 

Morbus Gaucher

  • Schettler, G., Kahlke, W.: Gaucher’s disease. In Lipids and Lipidoses (Hrsg. Schettler, G), S. 260, Berlin-Heidelberg-New York: Springer 1967.

    Google Scholar 

Mukopolysaccharidosen

  • Bori, P. F., Hooghwinkel, G. J. M., Edgar, G. W. F.: Brain ganglioside pattern in three forms of amaurotic idiocy and in gargoylism. J. Neurochem. 13, 1249 (1966).

    Article  Google Scholar 

  • Ho, M. W., O’Brien, J. S.: Hurler’s syndrome: deficiency of a specific beta-galactosidase isoenzyme. Science 165, 611 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Öckerman, P. A.: Acid hydrolase in skin and plasma in gargoylism. Deficiency of beta-galactosidase in skin. Clin. chim. Acta 20, 1 (1968).

    Article  PubMed  Google Scholar 

Nervenbiopsie

  • Carlsson, C. B., Swanson, A. G.: Diseases of peripheral nerves. In Genetics of neuromuscular disease. Pediat. Clin. N. Amer. 14, 954 (1967).

    Google Scholar 

  • Dyck, P. J., Lofgren, E. P.: Nerve biopsy. Choice of nerve, method, symptoms and usefulness. Med. Clin. N. Amer. 52, 885 (1968).

    PubMed  CAS  Google Scholar 

  • Dyck, P. J., Gutrecht, J. A., Bastron, J. A., Karnes, W. E., Dale, A. J. D.: Histologic and teased-fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin. Proc. 43, 81 (1968).

    PubMed  CAS  Google Scholar 

  • Dyck, P. J., Ellefson, R. D., Lais, A. C., Smith, R. C., Taylor, W. F., Van Dyke, R. A.: Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: Preliminary report of a lipid abnormality in nerve and liver in Déjérine-Sottas disease. Mayo Clin. Proc. 45, 286 (1970).

    PubMed  CAS  Google Scholar 

  • Hagberg, B., Sourander, P., Thorén, L.: Peripheral nerve changes in the diagnosis of metachromatic leukodystrophy. Acta pae-diat. Suppl. 135, 63 (1962).

    Article  CAS  Google Scholar 

  • Page, K. M.: Histological methods for peripheral nerves-Part I. J. med. Lab. Technol. 27, 1 (1970).

    PubMed  CAS  Google Scholar 

  • Sourander, P., Olsson, Y.: Peripheral neuropathy in globoid cell leukodystrophy (M. Krabbe). Acta neuropath. (Berl.) 11, 69 (1968).

    Article  CAS  Google Scholar 

Neuroaxonale Dystrophie

  • Sandbank, U., Lerman, P., Geifman, M.: Infantile neuroaxonale dystrophy: Cortical axonic and presynaptic changes. Acta neuropath. (Berl.) 16, 342 (1970).

    Article  CAS  Google Scholar 

  • Toga, M., Berard-Badier, M., Gambarelli-Dubois, D.: La dystrophic neuroaxonale infantile ou maladie de Seitelberger. Acta neuropath. (Berl.) 15, 327 (1970).

    Article  CAS  Google Scholar 

Pelizaeus-Merzbachersche Krankheit

  • Förster, C., Daschner, F., Murken, J.-D.: Pelizaeus-Merzbacher-Krankheit: Zur Frage der klinischen Diagnose. Z. Kinderheilk. 110, 248 (1971).

    Article  PubMed  Google Scholar 

Refsumsche Krankheit

  • Flament-Durand, J., Noel, P., Rutsaert, J., Toussaint, D., Malmendier, C., Lyon, G.: A case of Refsum’s disease: Clinical, pathological, ultrastructural and biochemical study. Path. europ. 6, 172 (1971).

    CAS  Google Scholar 

  • Herndon, J. H. Jr., Steinberg, D., Uhlendorf, B. W.: Refsum’s disease: Defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes. New Engl. J.Med. 281, 1034 (1969).

    Article  PubMed  CAS  Google Scholar 

  • Kahlke, W.: Heredopathia atactica polyneuritiformis (Refsum’s disease). In Lipids and Lipidoses (Hrsg. G. Schettler), S. 352, Berlin-Heidelberg-New York: Springer 1967.

    Google Scholar 

  • Steinberg, D., Vroom, F. Q., Engel, W. K., Cammermeyer, J., Mize, Ch. E., Avigan, J.: Refsum’s disease. A recently characterized lipidosis involving the nervous system. Ann. Int. Med. 66, 365 (1967).

    PubMed  CAS  Google Scholar 

  • Try, K., Stokke, O.: Biochemical and Dietary Studies in Refsum’s Disease (Heredopathia Atactica Polyneuritiformis) Oslo: Universi-tetsförlaget, 1969.

    Google Scholar 

Rektumbiopsie

  • Bodian, M., Lake B. D.: The rectal approach to neuropathology. Brit. J. Surg. 50, 702 (1963).

    Article  PubMed  CAS  Google Scholar 

  • Brett, E. M., Berry, C. L.: Value of rectal biopsy in paediatric neurology: Report of 165 biopsies. Brit. J. Med. 3, 400 (1967).

    Article  CAS  Google Scholar 

  • Finch, E., Emery, J. L., Lister, J.: Histochemistry of the intrinsic nerves of the rectum and colon. In Some Recent Advances in Inborn Errors of Metabolism (Hrsg. Holt, K. S. & Coffey, V. P.), S. 132, Edinburgh: E. & S. Livingstone 1968.

    Google Scholar 

  • Kamoshita, S., Landing, B. H.: Distribution of lesions in myenteric plexus and gastrointestinal mucosa in lipidoses and other neurological disorders in children. Amer. J. clin. Path. 49, 312 (1968).

    CAS  Google Scholar 

  • Martin, L. W., Landing, B. H., Nakai, H.: Rectal biopsy as an aid in the diagnosis of infants and children. J. Pediat. 62, 197 (1963).

    Article  Google Scholar 

  • Swenson, O.: Pediatric Surgery, S. 403, Appleton-Century-Crofts. New York, 1958.

    Google Scholar 

Sudanophile Leukodystrophie

  • Tsuchiya, Y., Numabe, T., Yokoi, S.: Neuropathological and neurochemical studies of three cases of sudanophilic leukodystrophy. Acta neuropath. (Berl.) 16, 353 (1970).

    Article  CAS  Google Scholar 

Sulfatidose

  • Hackett, T., Hackett, R. J., Bray, P. F., Madsen, J. A.: Chemical detection of metachromatic leukodystrophy in disease and carrier states. Amer. J. Dis. Child. 122, 223 (1971).

    PubMed  Google Scholar 

  • Hagberg, B.: Clinical symptoms, signs and tests in metachromatic leukodystrophy. In Brain-lipids and Lipoproteins, and the Leukodystrophies (Hrsg. Folch-Pi, J. & Bauer, H. J.), S. 134, Amsterdam: Elsevier 1963.

    Google Scholar 

  • Kohn, R.: Papillomatosis of the gallbladder in metachromatic leukodystrophy. Amer. J. clin. Path. 52, 737 (1969).

    CAS  Google Scholar 

  • Murphy, J. V., Wolfe, H. J., Balasz, E. A., Moser, H. W.: A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate, and glycosaminoglycans. In Lipid Storage Diseases (Hrsg. Bernsohn, J. & Grossman, H. J.), S. 67. New York: Academic Press 1971.

    Google Scholar 

  • Résibois, A.: Electron microscopic studies of metachromatic leukodystrophy. IV. Liver and kidney alterations. Path. europ. 6, 278 (1971).

    Google Scholar 

  • Stumpf, D. A., Austin, J. H.: Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leukodystrophy. In Lipid Storage Diseases (Hrsg. Bernsohn, J. & Grossman, H. J.), S. 203. New York: Academic Press 1971.

    Google Scholar 

Wilsonsche Krankheit

  • Bergsma, D. (Hrsg.): Wilson’s disease. Birth Defects. Original Article Series, vol. IV, No. 2; April 1968.

    Google Scholar 

  • Falkmer, S., Samuelsson, Sjölin, S.: Penicillamine-induced normalization of clinical signs, and liver morphology and histochemistry in a case of Wilson’s disease. Pediatrics 45, 260 (1970).

    PubMed  CAS  Google Scholar 

Zahnextraktion

  • Anneroth, G., Ivemark, B. I.: Histochemical localization of lipids in human dental pulp. Svensk Tandläk.-T. 63, 747 (1970).

    CAS  Google Scholar 

  • Gardner, D. G., Zeman, W.: Biopsy of the dental pulp in diagnosis of metachromatic leukodystrophy. Develop. Med. Child Neurol. 1, 620 (1965).

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

Copyright information

© 1971 Biörn Ivemark und Almqvist & Wiksell Förlag AB, Stockholm

About this chapter

Cite this chapter

Ivemark, B. (1971). Neurometabolische Krankheiten. In: Kinderpathologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-65723-8_5

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-65723-8_5

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-65724-5

  • Online ISBN: 978-3-642-65723-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics