Skip to main content
SpringerLink
Log in

Progress in investigations of sphingolipidoses

  • Review-Articles
  • Published:
Acta Neuropathologica Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Adachi, M., Amsterdam, D., Brooks, S., Schneck, L., Volk, B. W.: Transformed cells from fetal Tay-Sachs disease (TSD) induced by Simian virus 40 (SV40). J. Neuropath. Exp. Neurol.36, 590 (1977)

    Google Scholar 

  2. Adachi, M., Schneck, L., Volk, B. W.: Ultrastructural studies of eight cases of fetal Tay-Sachs disease. Lab. Invest.30, 102–112 (1974)

    Google Scholar 

  3. Adachi, M., Schneck, L., Volk, B. W.: Neurotoxic effects of chlorphentermine on rats. In: Neurotoxicology Vol. 1 (eds. L. Roizin, H. Shiraki and N. Grčević), p. 497 New York: Raven Press 1977

    Google Scholar 

  4. Adachi, M., Torii, J., Amsterdam, D., Brooks, S., Schneck, L., Volk, B. W.: Tissue culture from fetal Tay-Sachs disease. J. Neuropath. Exp. Neurol.31, 208 (1972)

    Google Scholar 

  5. Adachi, M., Torii, J., Karvounis, P. C., Volk, B. W.: Alterations of astrocytic organelles in various lipidoses and allied diseases. Acta neuropath. (Berl.)18, 74–83 (1971)

    Google Scholar 

  6. Adachi, M., Torii, J., Schneck, L., Volk, B. W.: The fine structure of fetal Tay-Sachs disease. Arch. Path.91, 48–54 (1971)

    Google Scholar 

  7. Adachi, M., Torii, J., Schneck, L., Volk, B. W.: Fine structure of early Tay-Sachs disease. In: Sphingolipids, sphingolipidoses and allied disorders (eds. B. W. Volk and S. M. Aronson), p. 1. New York: Plenum Press 1972

    Google Scholar 

  8. Adachi, M., Tsai, C.-Y., Greenbaum, M., Mask, B., Volk, B. W.: Ultrastructure and biochemical studies of rat CNS and viscera after subcutaneous injection of chlorphentermine. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 429 New York: Plenum Press 1976

    Google Scholar 

  9. Adachi, M., Tsai, C.-Y., Hoffman, L. M., Schneck, L., Volk, B. W.: The central nervous system, liver, and spleen of FM mice. Arch. Path.97, 232–238 (1974)

    Google Scholar 

  10. Adachi, M., Tsai, C.-Y., Wellmann, K. F., Volk, B. W.: Ultrastructural alterations of liver, lung, pancreas and CNS of mice induced by chlorphentermine. Fed. Proc.33, 607 (1974)

    Google Scholar 

  11. Adachi, M., Volk, B. W.: Pathology. In: The gangliosidoses (eds. B. W. Volk and L. Schneck), p. 125. New York: Plenum Press 1975

    Google Scholar 

  12. Adachi, M., Volk, B. W.: Methodology: Histochemistry. In: The gangliosidoses (eds. B. W. Volk and L. Schneck), p. 249. New York: Plenum Press 1975

    Google Scholar 

  13. Adachi, M., Volk, B. W.: Gaucher's disease in mice induced by conduritol-B-epoxide. Arch. Path.101, 255–259 (1977)

    Google Scholar 

  14. Adachi, M., Volk, B. W., Schneck, L.: Animal model of human disease. Niemann-Pick disease type C. Am. J. Path.85, 229–231 (1976)

    Google Scholar 

  15. Adachi, M., Volk, B. W., Schneck, L., Relkin, R.: Ultrastructural alterations of endocrine glands in Tay-Sachs disease. Am. J. Clin. Path.57, 557–561 (1972)

    Google Scholar 

  16. Adachi, M., Volk, B. W., Schneck, L., Torrii, J.: Fine structure of the myenteric plexus in various lipidoses. Arch. Path.87, 228–241 (1969)

    Google Scholar 

  17. Adachi, M., Wallace, B. J., Schneck, L., Volk, B. W.: Fine structure of central nervous system in early infantile Gaucher's disease. Arch. Path.83, 513–526 (1967)

    Google Scholar 

  18. Andrews, J. M., Cancilla, P. A.: Cytoplasmic inclusions in human globoid cell leukodystrophy. Arch. Path.89, 53–55 (1970)

    Google Scholar 

  19. Argyrakis, A., Pilz, H., Goebel, H. H., Müller, D.: Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy. J. Neuropath. Exp. Neurol.36, 693–711 (1977)

    Google Scholar 

  20. Aronson, S. M.: Epidemiology. In: Tay-Sachs disease (ed. B. W. Volk), p. 118 New York: Grune & Stratton 1964

    Google Scholar 

  21. Aronson, S. M.: Epidemiology. In: The gangliosidoses (eds. B. W. Volk and L. Schneck), p. 159. New York: Plenum Press 1975

    Google Scholar 

  22. Aronson, S. M., Aronson, B. E., Volk, B. W.: A genetic profile of infantile amaurotic family idiocy: statistical evaluation of one hundred thirty-one patients. J. Dis. Child.98, 50–65 (1959)

    Google Scholar 

  23. Aronson, S. M., Valsamis, M. P., Volk, B. W.:Infantile amaurotic idiocy. Occurrence, genetic considerations and pathophysiology in the non-Jewish infant. Pediat.26, 229–242 (1960)

    Google Scholar 

  24. Aronson, S. M., Volk, B. W.: Genetic and demographic considerations concerning Tay-Sachs disease. In: Cerebral sphingolipidoses (eds. S. M. Aronson and B. W. Volk), p. 375. New York: Academic Press 1962

    Google Scholar 

  25. Aurebeck, G., Ostergerg, K., Blaw, M., Chou, S., Nelson, E.: Electron microscopic observations on metachromatic leukodystrophy. Arch. Neurol.11, 273–287 (1964)

    Google Scholar 

  26. Austin, J. H.: Metachromatic sulfatides in cerebral white matter and kidney. Proc. Soc. Exp. Biol.100, 361–364 (1959)

    Google Scholar 

  27. Austin, J. H.: Studies in globoid (Krabbe) leukodystrophy. II. Controlled thin-layer chromatographic studies of globoid body fractions in seven patients. J. Neurochem.10, 921–930 (1963)

    Google Scholar 

  28. Austin, J. H.: Mental retardation, metachromatic leucodystrophy (sulfatide lipidosis, metachromatic leucodystrophy). In: Medical aspects of mental retardation (eds. C. H. Carter), p. 768. Springfield: Charles C. Thomas 1965

    Google Scholar 

  29. Austin, J. H., Armstrong, D., Shearer, L.: Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity; a controlled study of brain, liver and kidneys in four patients with metachromatic leucodystrophy (MLD). Arch. Neurol.13, 593–614 (1965)

    Google Scholar 

  30. Austin, J. H., Lehfeldt, D.: Studies in globoid (Krabbe) leucodystrophy. III. significance of experimentally-produced globoid-like elements in rat white matter and spleen. J. Neuropath. Exp. Neurol.24, 265–289 (1965)

    Google Scholar 

  31. Backwinkel, K. P., v. Bassewitzk, D. B., Dickmann, L., Themann, H.: Ultrastructure of heart muscle in generalized gangliosidosis GM1. Z. Kinderheilk.110, 104–114 (1971)

    Google Scholar 

  32. Baraton, G., Revol, A.: Activateur des sphingohydrolases et nature du deficit en sphingomyelinase dans la maladie de Niemann-Pick Type A, B et C. Clin. Chim. Acta76, 339–343 (1977)

    Google Scholar 

  33. Bernheimer, H., Seitelberger, F.: Über das Verhalten der Ganglioside im Gehirn bei 2 Fällen von Spätinfantiler Amaurotischer Idiotie. Wien. Klin. Wochenschr.80, 163–164 (1968)

    Google Scholar 

  34. Beutler, E., Kuhl, W., Comings, D.: Hexosaminidase in type 0 GM2 gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet.27, 628–638 (1975)

    Google Scholar 

  35. Beutler, E., Villacorte, D., Kuhl, W., Guinto, E., Shrivastava, S.: Nonenzymatic conversion of human hexosaminidase A. J. Lab. Clin. Med.86, 195–203 (1975)

    Google Scholar 

  36. Bischoff, A., Ulrich, J.: Amaurotische Idiotie in Verbindung mit metachromatischer Leukodystrophie: Übergangsform oder Kombination? Elektronenmikroskopische und histochemische Befunde. Acta neuropath. (Berl.)8, 292–308 (1967)

    Google Scholar 

  37. Bischoff, A., Ulrich, J.: Peripheral neuropathy in globoid cell leukodystrophy (Krabbe's disease). Ultrastructural and histochemical findings. Brain92, 861–870 (1969)

    Google Scholar 

  38. Blackwood, W., Cuming, J. N.: A histochemical and chemical study of three cases of diffuse cerebral sclerosis. J. Neuro. Neurosurg. Psychiat.17, 33–49 (1954)

    Google Scholar 

  39. Boklan, B. F., Sawitsky, A.: Factor X dificiency in Gaucher's disease. Arch. Intern. Med.136, 489–492 (1976)

    Google Scholar 

  40. Brady, R. O., Gal, A. E., Bradley, R. M., Martensson, E., Warshaw, A. L., Laster, L.: Enzymatic effect in Fabry's disease. Ceramide trihexosidase deficiency. New Engl. J. Med.276, 1163–1167 (1967)

    Google Scholar 

  41. Brady, R. O., Kanfer, J. N., Mock, M. B., Fredrickson, D. S.: The metabolism of sphingomyelin. II. Evidence of an enzyme deficiency in Niemann-Pick disease. Proc. Nat. Acad. Sci.55, 366–369 (1966)

    Google Scholar 

  42. Brady, R. O., Kanfer, J. N., Shapiro, D.: Metabolism of glucocerebroside. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun.18, 221–225 (1965)

    Google Scholar 

  43. Brady, R. O., Uhlenorf, B. W., Jacobson, C. B.: Fabry's disease: Antenatal diagnosis. Science172, 174–175 (1971)

    Google Scholar 

  44. Callahan, J. W., Khalil, M.: Sphingomyelinase in human tissues. II. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, Type C. Pediat. Res.9, 908–913 (1975)

    Google Scholar 

  45. Callahan, J. W., Pinsky, L., Wolfe, L. S.: GM1-gangliosidosis (type II): Studies on a fibroblast cell stain. Biochem. Med.4, 295–316 (1970)

    Google Scholar 

  46. Cantz, M., O'Brien, J. F., Kresse, H.: Sandhoff disease: Impaired catabolism of sulfated glycosaminoglycans in cultured fibroblasts. Birth Defects11, 261–267 (1975)

    Google Scholar 

  47. Carmody, P. J., Rattazzi, M. C., Davidson, R. G.: Tay-Sachs disease—the use of tears for the detection of heterozygotes. New Engl. J. Med.289, 1072–1074 (1973)

    Google Scholar 

  48. Chargaff, E.: A study of the spleen in a case of Niemann-Pick disease. J. Biol. Chem.130, 503–511 (1939)

    Google Scholar 

  49. Chrisp, C. E., Ringler, D. H., Abrams, G. D., Radin, N. S., Brenkert, A.: Lipid storage disease in a Siamese cat. J. Am. Vet. Med. Ass.156, 616–622 (1970)

    Google Scholar 

  50. Cogen, D. G., Kuwabara, T., Moser, H.: Metachromatic leucodystrophy. Ophthal.160, 2–17 (1970)

    Google Scholar 

  51. Cong, M., van Weil, D., Rebourcet, R., Pangalos, C., Frezal, J.: Tay-Sachs and Sandhoff disease: An hypothesis about the primary lesion based on hexosaminidase patterns in interspecific hybrids. Birth Defects11, 272–275 (1975)

    Google Scholar 

  52. Constantino-Ceccarini, E., Fletcher, T. F., Suzuki, K.: Glycolipid metabolism in the canine form of globoid cell leukodystrophy. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 127. New York: Plenum Press 1976

    Google Scholar 

  53. Cravioto, H., O'Brien, J., Landing, B. H., Finck, B.: Ultrastructure of peripheral nerve in metachromatic leucodystrophy. Acta neuropath. (Berl.)7, 111–124 (1966)

    Google Scholar 

  54. Crocker, A. C.: The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurochem.7, 69–80 (1961)

    Google Scholar 

  55. Dacremont, G., Kint, J. A., Carton, D., Cocquyt, G.: Glucosylceramide in plasma of patients with Niemann-Pick disease. Clin. Chim. Acta52, 365–367 (1974)

    Google Scholar 

  56. Dawson, G., Matalon, R., Stein, A. O.: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts. J. Pediat.79, 423–429 (1971)

    Google Scholar 

  57. Dawson, G., Stein, A. O.: Lactosylceramidosis: Catabolic enzyme defect of glycosphingolipid metabolism. Science170, 556–558 (1970)

    Google Scholar 

  58. Dayan, A. D.: Peripheral neuropathy of metachromatic leucodystrophy: observation on segmental demyelination and the intracellular distribution of sulphatide. J. Neurol. Neurosurg. Psychiat.30, 311–318 (1967)

    Google Scholar 

  59. De Baccque, C. M., Suzuki, K., Rapin, I., Johnson, A. N., Whethers, D. L., Suzuki, K.: GM2-gangliosidosis, AB variant. Clinico-pathological study of a case. Acta neuropath. (Berl.)33, 207–226 (1975)

    Google Scholar 

  60. Derry, D. M., Fawcett, J. S., Andermann, F., Wolfe, L. S.: Late infantile systemic lipidosis. Major monosialogangliosidosis delineation of two types. Neurol.18, 340–348 (1968)

    Google Scholar 

  61. Desnick, R. J., Grivit, W., Sharp, H. L.: In utero diagnosis of Sandhoff's disease. Biochem. Biophys. Res.51, 20–24 (1973)

    Google Scholar 

  62. Distler, J., Hieber, V., Schmickel, R., Myerowitz, R., Jourdian, G. W.: Correction of accumulation of sulfate-containing compounds in cultured generalized gangliosidosis fibroblasts by beta-galactosidase. Birth Defects11, 311–315 (1975)

    Google Scholar 

  63. Donnelly, J. C., Sheahan, B. J.: Animal model of human disease. GM1-gangliosidosis type II. Am. J. Path.81, 255–258 (1975)

    Google Scholar 

  64. Dreyfus, J.-C., Poenaru, L., Svennerholm, L.: Absence of hexosaminidase A and B in a normal adult. New Engl. J. Med.292, 61–63 (1975)

    Google Scholar 

  65. Dunn, H. G., Dolman, C. L., Farrell, D. F., Tischler, B., Hasinoff, C., Woolf, L. I.: Krabbe's leukodystrophy without globoid cells. Neurol.26, 1035–1041 (1976)

    Google Scholar 

  66. Ecg-Olofson, L., Kristensson, K., Sourander, P., Svennerholm, L.: Tay-Sachs disease. A generalized metabolic disorder. Acta paediat. scand.55, 546–562 (1966)

    Google Scholar 

  67. Ellis, W. G., Schneider, E. L., McCulloch, J. R., Suzuki, K., Epstein, C. J.: Fetal globoid cell leukodystrophy (Krabbe disease). Pathological and biochemical examination. Arch. Neurol.29, 253–257 (1973)

    Google Scholar 

  68. Epstein, C. J., Brady, R. O., Schneider, E. L., Bradley, R. M., Shapiro, D.: In utero diagnosis of Niemann-Pick disease. Am. J. Hum. Genet.23, 533–535 (1971)

    Google Scholar 

  69. Farkas-Bargeton, E.: Idiotie amaurotique infantile avec surcharge viscérale. In: Proc. fifth inter. cong. neuropath. (eds. F. Lüthy and A. Bischoff), p. 135. Amsterdam: Excerpta Medica 1965

    Google Scholar 

  70. Farrel, D. P., Baker, H. J., Herndon, R. M., Lindsey, J. R., McKhann, G. M.: Feline GM1 gangliosidosis: Biochemical and ultrastructural comparisions with the disease in man. J. Neuropath. Exp. Neurol.27, 1–18 (1973)

    Google Scholar 

  71. Frederickson, D. S., Sloan, H. R.: Glycosyllipidosis: Gaucher's disease. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden and D. S. Frederickson), p. 730. New York: McGraw Hill 1972

    Google Scholar 

  72. Frederickson, D. S., Slona, H. R.: Sphingomyelin lipidosis: Niemann-Pick disease. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden and D. S. Frederickson), p. 783. New York: McGraw Hill 1972

    Google Scholar 

  73. Frederickson, D. S., Sloan, H. R., Hansen, C. T.: Lipid abnormalities in foam cell reticulosis of mice, an analogue of human sphingomyelin lipidosis. J. Lipid Res.10, 288–293 (1969)

    Google Scholar 

  74. Fukuhara, N., Suzuki, M., Fujita, N., Tsubaki, T.: Fabry's disease on the mechanism of the peripheral nerve involvement. Acta neuropath. (Berl.)33, 9–21 (1975)

    Google Scholar 

  75. Gatt, S., Berman, E. R.: Studies on brain lipids in Tay-Sachs disease. I. Isolation of two sialic acid-free glycolipids. J. Neurochem.10, 43–49 (1963)

    Google Scholar 

  76. Goldie, W. D., Holtzman, D., Suzuki, K.: Chronic hexosaminidase A and B deficiency. Ann. Neurol.2, 156–158 (1977)

    Google Scholar 

  77. Gonatas, N. K., Gonatas, J.: Ultrastructural and biochemical observations on a case of systemic late infantile lipidosis and its relationship to Tay-Sachs disease and gargoylism. J. Neuropath. Exp. Neurol.24, 318–340 (1965)

    Google Scholar 

  78. Grégoire, A., Périer, O., Dustin, P.: Metachromatic leucodystrophy, an electron microscopie study. J. Neuropath. Exp. Neurol.25, 617–636 (1966)

    Google Scholar 

  79. Hana, S., Yamakawa, T.: Biochemical studies in cat and human gangliosidosis. J. Neurochem.18, 1275–1280 (1971)

    Google Scholar 

  80. Harzer, K., Stengle-Rutkowski, S., Gley, E.-O., Albert, A., Murken, J.-D., Zahn, V., Henkel, K. P.: Prenatal diagnosis der GM2-gangliosidosis Typ 2. Dtsch. med. Wschr.100, 106–108 (1975)

    Google Scholar 

  81. Harzer, K.: Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease). Hum. Genet.35, 193–196 (1977)

    Google Scholar 

  82. Harzer, K., Anzil, A. P., Schuster, L.: Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: Evidence for a component defect in Niemann-Pick disease type C is spurious. J. Neurochem.29, 1155–1157 (1977)

    Google Scholar 

  83. Hösli, P.: Simple ultra-microtechniques for genetic complementation analysis and early prenatal diagnosis of sphingolipidoses. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 1 New York: Plenum Press 1976

    Google Scholar 

  84. Hultberg, B.: N-acetylhexosaminidase activities in Tay-Sachs disease. Lancet2, 1195 (1969)

    Google Scholar 

  85. Ikonne, J. U., Rattazzi, M. C., Desnick, R. J.: Characterization of hex S, the major residual beta hexosaminidase activity in type0 GM2-gangliosidosis (Sandhoff-Jatzkewitz disease). Am. J. Hum. Genet.27, 639–650 (1975)

    Google Scholar 

  86. Jatzkewitz, H.: Zwei Typen von Cerebrosid-Schwefelsäureestern als sog. “Prälipoide” und Speichersubstanzen bei der Leukodystrophie, Typ Scholz. Hoppe-Seylers Z. physiol. Chem.311, 279–282 (1958)

    Google Scholar 

  87. Johnston, A. W., Warland, B. J., Weller, S. D. V.: Genetic aspects of angiokeratoma corporis diffusum. Ann. Hum. Genet.30, 25–41 (1966)

    Google Scholar 

  88. Jørgensen, L., Blacksted, T. W., Harkmark, W., Steen, J. A.: Niemann-Pick disease: Report of a case with histochemical evidence of neural storage of acid glycolipids. Arch. neuropath. (Berl.)4, 90–106 (1964)

    Google Scholar 

  89. Kaback, M. M., Sloan, H. R., Sonneborn, M., Herndon, R. M., Percy, A. K.: GM1-gangliosidosis type I: In utero detection and fetal and manifestations. J. Pediatr.82, 1037–1041 (1973)

    Google Scholar 

  90. Kanfer, J. N., Raghaven, S. S., Mumford, R. A., Sullivan, J., Spielvogel, C., Legler, G., Labow, R. S., Williamson, D. G., Lane, D. S.: Recent observations on Gaucher's disease. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 77. New York: Plenum Press 1976

    Google Scholar 

  91. Karbe, E.: Animal model of human disease. GM2-gangliosidosis (Amaurotic idiocies) types I, II and III. Am. J. Path.71, 151–154 (1973)

    Google Scholar 

  92. Klenk, E.: Über die Natur der Phosphatide der Milz bei der Niemann-Pickschen Krankheit. Z. physiol. Chem.229, 151–156 (1934)

    Google Scholar 

  93. Klenk, E.: Über die Ganglioside des Gehirns bei infantiler amaurotischer Idiotie vom Typus Tay-Sachs. Ber. Dtsch. Chem. Ges.75, 1632–1636 (1942)

    Google Scholar 

  94. Klibansky, C., Saifer, A., Feldman, N. I., Schneck, L., Volk, B. W.: Cerebral lipids in a case of systemic GM2-gangliosidosis of a late infantile type. J. Neurochem.17, 339–346 (1970)

    Google Scholar 

  95. Kolodny, E. H., Wald, I., Moser, H. W., Cogan, D. C., Kuwabara, T.: GM2-gangliosidosis without deficiency in the artificial substrate cleaving activity of hexosaminidase A and B. Neurol. (Minneap.)23, 427 (1973)

    Google Scholar 

  96. Landing, B. H., Rubinstein, J. H.: Biopsy diagnosis of neurologic diseases in children with emphasis on the lipidoses. In: Cerebral sphingolipidoses (eds.) S. M. Aronson and B. W. Volk), p. 1. New York: Academic Press 1962

    Google Scholar 

  97. Landing, B. H., Silverman, F. N., Craig, J. M., Jacoby, M. D., Labey, M. E., Chadwick, D. L.: Familial neurovisceral lipidosis. Am. J. Dis. Child.108, 503–512 (1964)

    Google Scholar 

  98. Lee, R. E.: The fine structure of the cerebroside occuring in Gaucher's disease. Proc. Natl. Acad. Sci. USA61, 484–489 (1968)

    Google Scholar 

  99. Lee, R. E., Balcerzak, S. P., Westerman, M. P.: Gaucher's disease: A morphologic study and measurements of iron metabolism. Am. J. Med.42, 891–898 (1967)

    Google Scholar 

  100. Legler, G.: Untersuchungen zum Wirkungsmechanismus glykosidspaltender Enzyme: III. Z. Physiol. Chem.349, 767–774 (1968)

    Google Scholar 

  101. Lenu, N. J.: Lactosylceramidosis: Light and electron microscopic observations. Neurol. (Minneap.)23, 791–797 (1973)

    Google Scholar 

  102. Leroy, J. G., Van Elsen, A. F., Martin, J. J., Dumon, J. E., Hulet, A. E., Okada, S., Navarro, C.: Intantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis. New Engl. J. Med.288, 1365–1369 (1973)

    Google Scholar 

  103. Lieberman, J.: Elevation of serum angiotensin-converting-enzyme (ACE) level in sarcoidosis. Am. J. Med.59, 365–372 (1975)

    Google Scholar 

  104. Lieberman, J., Beutler, E.: Elevation of serum angiotensin-converting enzyme in Gaucher's disease. New Engl. J. Med.294, 1442–1444 (1976)

    Google Scholar 

  105. Liu, H. M.: Ultrastructure of globoid leukodystrophy (Krabbe's disease) with reference to the origin of globoid cells. J. Neuropath. Exp. Neurol.29, 441–462 (1970)

    Google Scholar 

  106. Lowden, J. A., Callahan, J. W., Norma, M. G., Thain, M., Prichard, J. S.: Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components. Arch. Neurol.31, 200–203 (1974)

    Google Scholar 

  107. Lowden, J. A., Cutz, E., Conen, P. E., Rudd, N., Doran, T. A.: Prenatal diagnosis of GM1-gangliosidosis. New Engl. J. Med.288, 225–228 (1973)

    Google Scholar 

  108. Lüllman-Rauch, R., Reil, G. H., Rossen, E., Seiler, K. U.: The ultrastructure of rat lung changes induced by an anorectic drug (chlorophentermine). Virchows Arch. B11, 167–181 (1972)

    Google Scholar 

  109. MacBrinn, M. D., Okada, S., Ho, M. W., Hu, C. C., O'Brien, J. S.: Generalized gangliosidosis: Impaired cleaving of galactose from a mucopolysaccharide and a glycoprotein. Science163, 946–947 (1969)

    Google Scholar 

  110. MacDonald, M., McCathie, M., Faed, M. J. W., Pringle, R., Goodall, H. B., Beck, J. S., Tudhope, G. B., Mitchell, P. E. G., Wood, A. J. J., Guthrie, W., Shaw, D.: Gaucher's disease with biclonal gammopathy. J. Clin. Path.28, 757 (1975)

    Google Scholar 

  111. Makita, A., Suzuki, C., Yosizawa, Z., Konno, T.: Glycolipids isolated from the spleen of Gaucher's disease. Tohoku J. Exp. Med.88, 277–388 (1966)

    Google Scholar 

  112. Mapes, C. A., Anderson, R. L., Sweeley, C. C.: Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science169, 987–989 (1970)

    Google Scholar 

  113. Max, S. R., Maclaren, N. K., Brady, R. O., Bradley, R. M., Rennels, M. B., Tanake, J., Garcia, J. H., Cornblath, M.: GM3 (hematoside) sphingolipodystrophy. New Engl. J. Med.291, 929–931 (1974)

    Google Scholar 

  114. Mehl, E., Jatzkewitz, H.: Evidence for the genetic block in metachromatic leucodystrophy. Biophys. Res. Commun.19, 407–411 (1965)

    Google Scholar 

  115. Miyatake, T.: A study on glycolipid in Fabry's disease. Jap. J. Exp. Med.39, 35–45 (1969)

    Google Scholar 

  116. Miyatake, T., Suzuki, K.: Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase. Biochem. Biophys. Res. Commun.48, 539–543 (1972)

    Google Scholar 

  117. Moser, H. W.: Sullatide lipidosis: Metachromatic leukodystrophy. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden and D. S. Fredrickson), p. 688. New York: McGraw-Hill 1972

    Google Scholar 

  118. Murphy, J. V., Wolfe, H. J., Balazs, E. R., 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 (eds. J. Bernsohnd, H. J. Grossman), p. 67. New York: Academic Press 1971

    Google Scholar 

  119. Nelson, E., Aurebeck, G., Ostergerg, K., Berry, J., Jabbour, J. T., Bornhofen, J.: Ultrastructural and chemical studies on Krabbe's disease. J. Neuropath. Exp. Neurol.22, 414–434 (1963)

    Google Scholar 

  120. Norman, R. M., Urich, H., Tingey, A. H., Goodbody, R. A.: Tay-Sachs disease with visceral involvement and its relationship to Niemann-Pick disease. J. Path. Bact.78, 409–421 (1959)

    Google Scholar 

  121. O'Brien, J. S.: Molecular genetics of GM1 beta-galactosidase. Clin. Genet.8, 303–313 (1975)

    Google Scholar 

  122. O'Brien, J. S., Okada, S., Fillerup, D. L., Veath, M. L., Adoranto, B., Brenner, P. H., Leroy, J. G.: Tay-Sachs disease. Prenatal diagnosis. Sci.172, 61–64 (1971)

    Google Scholar 

  123. O'Brien, J. S., Okada, S., Ho, M. W., Fillerup, D. L., Veath, M. L., Adams, K.: Ganglioside storage disease. In: Lipid storage diseases. Enzymatic defects and clinical implications (eds. J. Bernsohn and H. J. Grossman), p. 225. New York: Academic Press 1971

    Google Scholar 

  124. O'Brien, J. S., Stern, M. B., Landing, B. H., O'Brien, J. K., Donnell, G. N.: Generalized gangliosidosis. Another inborn error of ganglioside metabolism? Am. J. Dis. Child.109, 338–346 (1965)

    Google Scholar 

  125. Okada, S., O'Brien, J. S.: Generalized gangliosidosis: Betagalactosidase deficiency. Science160, 1002–1004 (1968)

    Google Scholar 

  126. Okada, S., O'Brien, J. S.: Tay-Sachs disease. Generalized absence of B-D-N-acetyl-hexosaminidase component. Science165, 698–700 (1969)

    Google Scholar 

  127. Okada, S., Veath, M. L., O'Brien, J. S.: Juvenile GM2-gangliosidosis. Partial deficiency of hexosaminidase. A. J. Pediatr.77, 1063–1064 (1970)

    Google Scholar 

  128. Optiz, J. M., Cross, E. G., de Groot, W. P.: The genetics of angiokeratoma corporis diffusum (Fabry's disease), and its linkage with Xg (a) locus. Am. J. Hum. Genet.17, 325–342 (1965)

    Google Scholar 

  129. Patrick, A. D.: A deficiency of glucocerebrosidase in Gaucher's disease. Biochem. J.97, 17c (1965)

    Google Scholar 

  130. Penick, R. J., Meisler, M. H., McCluer, R. H.: Thin-layer chromatographic studies of human brain gangliosides. Biochem. Biophys. Acta116, 279–287 (1966)

    Google Scholar 

  131. Percy, A. K., McCormick, U. M., Kaback, M. M., Herndon, R. M.: Ultrastructural manifestations of GM1- and GM2-gangliosidosis in fetal tissues. Arch. Neurol.28, 417–419 (1973)

    Google Scholar 

  132. Philippart, M., Menkes, J. H.: Isolation and characterization of the main splenic glycolipids in Gaucher's disease: Evidence for the size of metabolic block. Biochem. Biophys. Res. Commun.15, 551 (1964)

    Google Scholar 

  133. Pierce, K. R., Kosanke, S. D., Ray, W. W., Bridges, C. H.: Animal model of human disease. GM2-gangliosidosis. Am. J. Path.83, 419–422 (1976)

    Google Scholar 

  134. Pilz, H., Sandhoff, K., Jatzkewitz, H.: Eine Gangliosidwechselstörung mit Anhäufung von Ceramidlactoside, Monosialoceramid, Lactosid und Tay-Sachs Gangliosid im Gehirn. J. Neurochem.13, 1273–1282 (1966)

    Google Scholar 

  135. Pratt, P. W., Estren, S., Kochwa, S.: Immunoglobulin abnormalities in Gaucher's disease: report of 16 cases. Blood31, 633–640 (1968)

    Google Scholar 

  136. Purpura, D. P., Suzuki, K.: Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res.116, 1–21 (1976)

    Google Scholar 

  137. Résibois, A.: Electron microscopic studies of metachromatic leucodystrophy. IV. Liver and kidney alterations. Pathol. Eur.6, 278–298 (1971)

    Google Scholar 

  138. Rouser, G., Kritchevski, G., Yamamoto, A., Knudson, A. G., Simon, G. G.: Accumulation of a glycerolphospholipid in classical Niemann-Pick disease. Lipids3, 287 (1968)

    Google Scholar 

  139. Rutsaert, J., Menu, R., Résibois, A.: Ultrastructure of sulfatide storage in normal and sulfatase-deficient fibroblasts in vitro. Lab. Invest.29, 527–535 (1973)

    Google Scholar 

  140. Sachs, B.: On arrested cerebral development with special reference to its cortical pathology. J. Nerv. Ment. Dis.14, 541–553 (1887)

    Google Scholar 

  141. Sacrez, R., Juif, J. G., Gigonnet, J. M., Gruner, J. E.: La maladie de Landing: Ou Idiotie amaurotique infantile precoce avec gangliosidose généralisée. De Type GM1. Pediat.22, 143–162 (1967)

    Google Scholar 

  142. Samuels, S., Korey, S. R., Gonatas, J., Terry, R. D., Weiss, M.: Studies on Tay-Sachs disease. IV. Membranous cytoplasmic bodies. 1. Biochemistry. J. Neuropath. Exp. Neurol.22, 81–91 (1963)

    Google Scholar 

  143. Sandhoff, K.: Variation of beta-N-acetylhexosaminidase pattern in Tay-Sachs disease. FEBS letters4, 351–354 (1969)

    Google Scholar 

  144. Sandhoff, K., Andreae, U., Jatzkewitz, H.: Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Life Sci.7, 283–288 (1968)

    Google Scholar 

  145. Sandhoff, K., Harzer, K., Wässle, W., Jatzkewitz, H.: Enzyme alterations and lipid storage in three variants of Tay-Sachs disease. J. Neurochem.18, 2469–2489 (1971)

    Google Scholar 

  146. Sandhoff, K., Jatzkewitz, J.: The chemical pathology of Tay-Sachs disease. In: Sphingolipids, sphinoglipidoses and allied disorders (eds. B. W. Volk and S. M. Aronson), p. 305. New York: Plenum Press 1972

    Google Scholar 

  147. Schibanoff, J. M., Kamoshita, S., O'Brien, J. S.: Tissue distibution of glycosphingolipids in a case of Fabry's disease. J. Lipid Res.10, 515–520 (1969)

    Google Scholar 

  148. Schneck, L., Friedland, J., Pourfar, M., Saifer, A., Volk, B. W.: Hexosaminidase activities in a case of systemic GM2-Gangliosidosis of late infantile type. Prc. Soc. Exp. Biol. Med.133, 997–998 (1970)

    Google Scholar 

  149. Schneck, L., Friedland, J., Valenti, C., Adachi, M., Amsterdam, D., Volk, B. W.: Prental diagnosis of Tay-Sachs disease. Lancet1, 582–584 (1970)

    Google Scholar 

  150. Schneck, L., Hoffman, L. M., Amsterdam, D., Brooks, S., Pinckett, B.: Glycolipids in cultured fetal Tay-Sachs disease cerebellar cells. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 495. New York: Plenum Press 1976

    Google Scholar 

  151. Schneider, E. L., Ellis, W. G., Brady, R. O., McCulloch, J. R., Epstein, C. J.: Infantile (type II) Gaucher's disease: In utero diagnosis and fetal pathology. J. Pediat.81, 1134–1139 (1972)

    Google Scholar 

  152. Schneider, E. L., Ellis, W. G., Brady, R. O., McCulloch, J. R., Epstein, C. J.: Prenatal Niemann-Pick disease: Biochemical and histological examination of a 19-gestational week fetus. Pediat. Res.6, 720–726 (1972)

    Google Scholar 

  153. Schneider, P. B., Kennedy, E. P.: Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease. J. Lipid Res.8, 202–209 (1967)

    Google Scholar 

  154. Schochet, S. S., Hardman, J. M., Lampart, P. W., Earle, K. M.: Krabbe's disease (globoid leukodystrophy): Electron microscopic observations. Arch. Path.88, 305–313 (1969)

    Google Scholar 

  155. Schochet, S. S., McCormick, W. F., Powell, G. F.: Krabbe's disease. A light and electron microscopic study. Acta neuropath. (Berl.)36, 153–160 (1976)

    Google Scholar 

  156. Scott, C. R., Lagunoff, D., Trump, F. B.: Familiar neurovisceral lipidosis. J. Pediat.71, 357–366 (1967)

    Google Scholar 

  157. Seringe, P., Plainfosse, B., Lautmann, F., Loriloux, J., Calamy, G., Berry, J. B., Watchi, J. M.: Ganglioside généralisée due type Norman-Landing. A GM1-Étude a propos d'un cas diagnostique du vivant due malade. Ann. Pediat. (Paris)51, 165–184 (1968)

    Google Scholar 

  158. Sharp, H. L., Desnick, R. J.: Sandhoff's disease: Diagnosis and evaluation by precutaneous liver biopsy. Gastroenterol.60, 752 (1971)

    Google Scholar 

  159. Shaw, C. M., Carlson, C. B.: Crystalline structures in globoid-epithelioid cells: An electron microscopic study of globoid leukodystrophy (Krabbe's disease). J. Neuropath. Exp. Neurol.29, 306–319 (1970)

    Google Scholar 

  160. Singer, J. D., Cotlier, E., Krimmer, R.: Hexosaminidase A in tears and salive for rapid identification of Tay-Sachs disease and its carriers. Lancet2, 1116 (1973)

    Google Scholar 

  161. Suzuki, K.: Ultrastructural study of experimental globoid cells. Lab. Invest.23, 612–619 (1970)

    Google Scholar 

  162. Suzuki, K., Chen, G. C.: Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis). J. Lipid Res.8, 105–113 (1967)

    Google Scholar 

  163. Suzuki, K., Grover, W. D.: Krabbe's leukodystrophy (globoid cell leukodystrophy): An ultrastructural study. Arch. Neurol.22, 385–396 (1970)

    Google Scholar 

  164. Suzuki, K., Suzuki, K., Chen, G. C.: Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leukodystrophy. J. Neuropath. Exp. Neurol.26, 537–550 (1967)

    Google Scholar 

  165. Suzuki, K., Suzuki, K., Chen, G. C.: GM1-Gangliosidosis (generalized gangliosidosis) morphology and chemical pathology. Path. Europ.3, 389–408 (1968)

    Google Scholar 

  166. Suzuki, K., Suzuki, K., Rapin, I., Suzuki, Y., Ishii, N.: Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease. Neurol. (Minncap.)20, 190–203 (1970)

    Google Scholar 

  167. Suzuki, K., Suzuki, Y.: Globoid cell leucodystrophy (Krabbe's disease) deficiency of galactocerebroside beta-galactosidase. Proc. Nat. Acad. Sci. USA66, 302–309 (1970)

    Google Scholar 

  168. Suzuki, K., Tanaka, H., Suzuki, K.: Studies on the pathogenesis of Krabbe's leukodystrophy: Cellular reaction of the brain to exogenous galactosylsphingosin, monogalactosyl diglyceride, and lactosylceramide. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 99. New York: Plenum Press 1976

    Google Scholar 

  169. Suzuki, Y., Jacob, J. C., Suzuki, K., Kutty, K. M., Suzuki, K.: GM2-gangliosidosis with total hexosaminidase deficiency. Neurol. (Minneap.)21, 313–328 (1971)

    Google Scholar 

  170. Svennerholm, L.: Chromatographic separation of human brain gangliosides. J. Neurochem.10, 613–623 (1963)

    Google Scholar 

  171. Svennerholm, L.: Some aspects of the biochemical changes in leucodystrophy. In: Brain lipids and lipoproteins, and the leucodystrophies (eds. J. Folch-Pi and H. Bauer), p. 104. Amsterdam: Elsevier 1963

    Google Scholar 

  172. Sweeley, C. C., Klionsky, B.: Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem.238, 3148–3150 (1963)

    Google Scholar 

  173. Sweeley, C. C., Klionsky, B.: Glycolipid lipidosis: Fabry's disease, In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson), p. 618. New York: McGraw-Hill 1966

    Google Scholar 

  174. Sweeley, C. C., Klionsky, B., Krivit, W., Desnick, R.: Fabry's disease: Glycosphingolipid lipidosis. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden and D. S. Fredrickson), p. 663. New York: McGraw Hill 1972

    Google Scholar 

  175. Takebayahi, S., v. Bassewitz, D. B., Themann, H.: Feinstrukturelle Veränderungen der Niere bei generalisierter Gangliosidose GM1. Virchows Arch. B.5, 301–313 (1970)

    Google Scholar 

  176. Tanaka, J., Garcia, J. H., Max, S. R., Vioriz, J. E., Kamijyo, Y., McLaren, N. K., Cornblath, M., Brady, R. O.: Cerebral sponginess and GM3 gangliosidosis. J. Neuropath. Exp. Neurol.34, 249–262 (1975)

    Google Scholar 

  177. Tay, W.: Symmetric changes in the region of the yellow spot in each eye of an infant. Trans. Ophthal. Soc. U. K.1, 55–57 (1881)

    Google Scholar 

  178. Terry, R. D., Weiss, M.: Studies on Tay-Sachs disease. II Ultrastructure of the cerebrum. J. Neuropath. Exp. Neurol.22, 18–55 (1963)

    Google Scholar 

  179. Themann, H., Dickmann, L., v. Bassewitz, D. B.: Die Feinstruktur der menschlichen Leber bei Generalisierter Gangliosidose GM1. Beitr. path. Anat. allg. Path.140, 194–211 (1970)

    Google Scholar 

  180. Thomas, P. K., King, R. H., Kocen, R. S., Brett, E. M.: Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy. Acta neuropath. (Berl.)39, 237–245 (1977)

    Google Scholar 

  181. Vanier, M.-T., Svennerholm, L.: Chemical pathology of Krabbe's disease: The occurrnece of psychosine and other neutral sphingoglycolipids. In: Current trend in sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 115. New York: Plenum Press 1976

    Google Scholar 

  182. Volk, B. W.: Pathologic anatomy. In: Tay-Sachs disease (ed. B. W. Volk), p. 36. New York: Grune and Stratton 1964

    Google Scholar 

  183. Volk, B. W., Adachi, M.: Diffuse cerebral sclerosis-Krabbe type. In: Handbook of clinical neurology. Vol. 10. Leucodystrophies and polydystrophies (eds. P. J. Vinken and G. W. Bruyn), p. 67. Amsterdam: North-Holland 1970

    Google Scholar 

  184. Volk, B. W., Adachi, M., Schneck, L., Saifer, A., Kleinberg, W.: G5-ganglioside variant of systemic late infantile lipidosis. Arch. Path.87, 393–403 (1969)

    Google Scholar 

  185. Volk, B. W., Wallace, B. J.: The liver in lipidosis. An electron microscopic and histochemical study. Am. J. Path.49, 203–225 (1966)

    Google Scholar 

  186. Wallace, B. J., Schneck, L., Kaplan, H., Volk, B. W.: Fine structure of the cerebellum in children with lipidoses. Arch. Path.80, 466–486 (1965)

    Google Scholar 

  187. Wallace, B. J., Volk, B. W., Schneck, L., Kaplan, H.: Fine structural localization of two hydrolytic enzymes in the cerebellum of children with lipidoses. J. Neuropath. Exp. Neurol.25, 76–96 (1966)

    Google Scholar 

  188. Wascowitz, B.: Niemann-Pick disease. Am. J. Dis. Child.42, 356–365 (1931)

    Google Scholar 

  189. Webster, H., de F.: Schwann cell alterations in metachromatic leukodystrophy: Preliminary phase and electron microscopic observations. J. Neuropath. Exp. Neurol.21, 534–554 (1962)

    Google Scholar 

  190. Weissmann, G., Cohen, C., Hoffstein, S.: The correction, in vitro, of lysosomal enzyme deficiencies by means of immunoglobulin coated liposomes. In: Current trends of sphingolipidoses and allied disorders (eds. B. W. Volk and L. Schneck), p. 509. New York: Plenum press 1976

    Google Scholar 

  191. Wenger, D. A., Barth, G., Githens, J. H.: Nine cases of sphingomyelin lipidosis, a new variant in Spanish-American children. Am. J. Dis. Child.131, 955–961 (1977)

    Google Scholar 

  192. Wenger, D. A., Sattler, M., Clark, C., Tanaka, H., Suzuki, K., Dawson, G.: Lactosyl ceramidosis: Normal activity for two lacytosyl ceramide beta-galactosidase. Science188, 1312–1314 (1975)

    Google Scholar 

  193. Wenger, D. A., Sattler, M., Hiatt, W.: Globoid cell leukodystrophy: Deficiency of lactosyl ceramide beta-galactosidase. Proc. Nat. Acad. Sci.71, 854–857 (1974)

    Google Scholar 

  194. Wenger, D. A., Sattler, M., Markey, S. P.: Deficiency of monogalactosyl diglyceride beta-galactosidase activity in Krabbe's disease. Biochem. Biophys. Res. Commun.53, 680–685 (1973)

    Google Scholar 

  195. Wolfe, L. S., Callahan, J., Fawcett, J. S., Andermann, F., Scriver, C.: GM1 gangliosidosis without chondrodystrophy of visceromegaly; beta-galactosidase deficiency with gangliosidosis and the excessive excretion of a keratan sulfate. Neurol. (Minneap.)20, 23–44 (1970)

    Google Scholar 

  196. Wood, S., MacDougall, B. G.: Juvenile Sandhoff disease: Some properties of the residual hexosaminidase in cultured fibroblasts. Am. J. Hum. Genet.28, 489–495 (1976)

    Google Scholar 

  197. Yajima, K., Fletcher, T. F., Suzuki, K.: Sub-plasmalemmal linear density: A common structure in globoid cells and mesenchymal cells. Acta neuropath. (Berl.)39, 195–200 (1977)

    Google Scholar 

  198. Yajima, K., Fletcher, T. F., Suzuki, K.: Canine globoid cell leukodystrophy. Part. 1. Further ultrastructural study of the typical lesion. J. Neurol. Sci.33, 179–197 (1977)

    Google Scholar 

  199. Young, E. P., Ellis, R. B., Lake, B. D., Patrick, A.: Tay-Sachs disease and related disorders. Fractionation of brain N-acetyl-beta-hexosaminidase. FEBS letter9, 1–4 (1970)

    Google Scholar 

  200. Yunis, E. J., Lee, R. E.: The ultrastructure of globoid (krabbe) leukodystrophy. Lab. Invest.21, 415–519 (1969)

    Google Scholar 

  201. Yunis, E. J., Lee, R. E.: The morphologic similarities of human and canine globoid leukodystrophy. Am. J. Path.85, 99–114 (1976)

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Neuroscience Center, Isaac Albert Research Institute of the Kingsbrook Jewish Medical Center, Brooklyn, New York

    L. Schneck

  2. Departments of Pathology and Neurology, Downstate Medical Center, State University of New York, Brooklyn, New York

    M. Adachi

  3. Department of Pathology, University of California, Irvine, California, USA

    B. W. Volk

Authors
  1. M. Adachi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. L. Schneck
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. B. W. Volk
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Adachi, M., Schneck, L. & Volk, B.W. Progress in investigations of sphingolipidoses. Acta Neuropathol 43, 1–18 (1978). https://doi.org/10.1007/BF00684994

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00684994

Search

Navigation