Lysosomal and Peroxisomal Disorders

Peripheral Neuropathy

Volumn 2, Issue , 2005, Pages 1845-1882

  Thomas, P K ^a   Goebel, Hans H ^b  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 79953175746     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7216-9491-7.50082-X     Document Type: Chapter

References (325)

1. Abraham K., Lampert P. Intraneuronal lipid deposits in metachromatic leGBRodystrophy. Neurology 1963, 13:686.
2. Abramov A., Schorr S., Wolman M. Generalised xanthomatosis with calcified adrenals. A. M. A. J. Dis. Child. 1956, 91:282.
3. Allen N., De Veyra E. Microchemical and histochemical observations in a case of Krabbe's leGBRodystrophy. J. Neuropathol. Exp. Neurol. 1967, 26:456.
4. Allen R.J., McCusker J.J., Tourtelotte W.W. Metachromatic leucodystrophy: clinical, histochemical and cerebrospinal fluid abnormalities. Pediatrics 1962, 30:629.
5. Alzheimer A. Beiträge zur Kenntnis der pathologischen Neuroglia und ihre Beziehungen zu den Abbauvorgängen im Nervengewebe. Histologische und histopathologische Arbeiten, Vol. III 1910, 401. Gustav Fischer, Jena. A. Alzheimer, F. Nissl (Eds.).
6. Anderson R.A., Bryson G.M., Parks J.S. Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. Mol. Genet. Metab. 1999, 68:333.
7. Andrews J.M., Cancilla P.A. Cytoplasmic inclusions in human globoid cell leGBRodystrophy: Krabbe's disease. Arch. Pathol. 1970, 89:53.
8. Anzil A.P., Blinzinger K., Martinius J. Ultrastructure of storage materials in metachromatic leGBRodystrophy peripheral neuropathy and in rabbit tissues after sulfatide application with special reference to pleated lamellar systems. J. Microsc. 1973, 18:173.
9. Araoz C., Sun C.N., Shenefelt R., White H.J. Glycogenosis type II (Pompe's disease): ultrastructure of peripheral nerves. Neurology 1974, 24:739.
10. Arvidson J., Hagberg B., Mansson J.-E., Svennerholm L. Late onset globoid cell leGBRodystrophy (Krabbe's disease)-Swedish case with 15 years of follow-up. Acta Paediatr. 1995, 84:218.
11. Assmann G., Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3551. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
12. Aubourg P., Scotto J., Rocchiccioli F., et al. Neonatal adrenoleGBRodystrophy. J. Neurol. Neurosurg. Psychiatry 1986, 49:77.
13. Aurebeck G., Osterberg K., Blaw M., et al. Ultrastructural observations on metachromatic leucodystrophy. J. Neuropathol. Exp. Neurol. 1964, 23:184.
14. Austin H.J. Studies in metachromatic leGBRodystrophy: XI. Therapeutic considerations. Enzyme Therapy in Genetic Diseases 1973, 125. Williams & Wilkins, Baltimore. O. Bergsma, R.J. Desnick, P.W. Bernlohr, W. Krivit (Eds.).
15. Austin H.J. Studies in metachromatic leGBRodystrophy: XII. Multiple sulfatase deficiency. Arch. Neurol. 1973, 28:258.
16. Austin J.H. Metachromatic form of diffuse cerebral sclerosis: 1. Diagnosis during life by urine sediment examination. Neurology 1957, 7:415.
17. Austin J.H. Metachromatic form of diffuse cerebral sclerosis: 2. Diagnosis during life by isolation of metachromatic lipids from urine. Neurology 1957, 7:716.
18. Austin J.H. Observations in metachromatic leucoencephalopathy. Trans. Am. Neurol. Assoc. 1958, 83:149.
19. Austin J.H. Recent studies in the metachromatic and globoid cell forms of diffuse sclerosis. Ultrastructure and Metabolism of the Nervous System (Association for Research and Nervous and Mental Diseases) 1962, 189. Williams & Wilkins, Baltimore. S.R. Korey, A. Pope, E. Robins (Eds.).
20. Austin J.H. Recent studies in the metachromatic and globoid body forms of diffuse sclerosis. Brain Lipids and Lipoproteins and the Leucodystrophies 1963, 120. Elsevier, Amsterdam. J. Folch-Pi, H.J. Bauer (Eds.).
21. Austin J.H., Armstrong D., Margolis G. Studies of globoid leGBRodystrophy in dogs. Neurology 1968, 18:300.
22. Austin J.H., Armstrong D., Shearer L. Metachromatic form of diffuse cerebral sclerosis 5. The nature and significance of low sulfatase activity: a controlled study of brain, liver, and kidney in 4 patients with metachromatic leucodys-trophy. Arch. Neurol. 1965, 13:593.
23. Austin J.H., Lehfeldt D., Maxwell W. Experimental "globoid bodies" in white matter and chemical analysis in Krabbe's disease. J. Neuropathol. Exp. Neurol. 1961, 20:284.
24. Austin J.H., SuzGBRi K., Armstrong D.A., et al. Studies in globoid (Krabbe) leGBRodystrophy (GLD) V. Controlled enzymatic studies in ten human cases. Arch. Neurol. 1970, 23:502.
25. Bach G. Mucolipidosis type IV: minireview. Mol. Genet. Metab. 2001, 73:197.
26. Bader P.I., Dougherty S., Cangany N., et al. Infantile Refsum's disease in four Amish sibs. Am. J. Med. Genet. 2000, 90:110.
27. Bajaj N.P.S., Waldman A., Orrell R., et al. Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging. J. Neurol. Neurosurg. Psychiatry 2002, 72:635.
28. Bardosi A., Friede R.L., Ropte S., Goebel H.H. A morphometric study on sural nerves in metachromatic leucodystrophy. Brain 1987, 110:683.
29. Bargal R., Goebel H.H., Latta E., Bach G. Mucolipidosis IV: Novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics 2002, 33:199.
30. Bargeton E. The metachromatic form of leucodystrophy and its relationship to lipidoses and demyelination in other metabolic disease. Brain Lipids and Lipoproteins and the Leucodystrophies 1963, 90. Elsevier, Amsterdam. J. Folch-Pi, H.J. Bauer (Eds.).
31. Barnes D., Misra P., Young E.P., et al. An adult-onset hexosaminidase A deficiency syndrome with sensory neuropathy and intranuclear ophthalmoplegia. J. Neurol. Neurosurg. Psychiatry 1991, 54:1112.
32. Bass N.H., Witmer E.J., Dreifuss F.E. A pedigree study of metachromatic leGBRodystrophy: biochemical identification of the carrier state. Neurology 1970, 20:50.
33. Bebin E.M., Gomez M.R., Forbes G.S., Moser H.W. Cerebral lesions of adrenoleGBRodystrophy remain static and patients asymptomatic during dietary therapy. Ann. Neurol. 1990, 28:436.
34. 2-gangliosidosis type Sandhoff. Eur. J. Pediatr. 1998, 157:866.
35. Beneke E. Ein Fall hochgradigster ausgedehnter Sklerose des Zentralnervensystems bei einem 1 3/4 -jährigen Knaben. Arch. Kinderheilkd. 1908, 42:420.
36. Bernal O.G., Lenn N. Multiple cranial nerve enhancement in early infantile Krabbe's disease. Neurology 2000, 54:2348.
37. Bertrand I., Thieffry S., Bargeton E. Leucodystrophie familiale et détermination splénohépatique caractérisant un trouble général du métabolisme. Rev. Neurol. (Paris) 1954, 91:161.
38. Beutler E., Grabowski G.A. Gaucher disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3635. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
39. Bischoff A. The peripheral nerves. Electron Microscopy in Human Medicine 1979, 137. McGraw-Hill, New York. J.V. Johannesson (Ed.).
40. Bischoff A., Ulrich J. Amaurotische Idiotie in Verbindung mit metachromatischer LeGBRodystrophie: Übergangsform oder Kombination?. Acta Neuropathol. (Berl.) 1967, 8:292.
41. Bischoff A., Ulrich J. Peripheral neuropathy in globoid cell leucodystrophy (Krabbe's disease): ultrastructural and histochemical findings. Brain 1969, 92:861.
42. Bloch-Zupan A., Lecolle S., Goldberg M. Galactosylceramide lipidosis (Krabbe's disease) and deciduous dental tissues: a case report. J. Submicrosc. Cytol. Pathol. 1994, 26:425.
43. Blume R.S., Wolff S.M. The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 1972, 51:247.
44. Boué J., Oberle I., Heilig R. First-trimester prenatal diagnosis of adrenoleGBRodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum. Genet. 1985, 69:727.
45. Bradley J., Thomas P.K., King R.H.M., et al. Morphometry of endoneurial capillaries in diabetic sensory and autonomic neuropathy. Diabetologica 1990, 33:611.
46. Brady R.O. Therapy for the sphingolipidoses. Arch. Neurol. 1998, 55:1055.
47. Brady R.O. Enzyme replacement therapy: conception, chaos and culmination. Philos. Trans. R. Soc. London B. Biol. Sci. 2003, 29:915.
48. Brady R.O., Kanfer J.N., Mock M., Frederickson D.S. The metabolism of sphingomyelin II: evidence of an enzyme deficiency in Niemann-Pick disease. Proc. Natl. Acad. Sci. U. S. A. 1966, 55:366.
49. Brion S., Mikol J., Graveleau J. Leucodystrophie métachromatique de ľadulte jeune: étude clinique, biologique et ultrastructurale. Rev. Neurol. (Paris) 1970, 122:161.
50. Burck U., Harzer K., Goebel H.H., et al. Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM-2 gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. Neuropädiatrie 1980, 11:161.
51. Burck U., Moser H.W., Goebel H.H., et al. A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur. J. Pediatr. 1985, 143:203.
52. Byrd J.C., Powers J.M. Wolman's disease: ultrastructural evidence of lipid accumulation in central nervous system. Acta Neuropathol. (Berl.) 1979, 54:37.
53. Cammermeyer J. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J. Neuropathol. Exp. Neurol. 1956, 15:340.
54. Castro M., Rosati P., Boldrini R., et al. Wolman's disease diagnosed by intestinal biopsy. Ital. J. Gastroenterol. Hepatol. 1999, 31:610.
55. Cengiz N., OUzbenli T., Onar M., et al. Adult metachromatic leGBRodystrophy: three cases with normal nerve conduction velocities in a family. Acta Neurol. Scand. 2002, 105:454.
56. Chaudhry V., Moser H.W., Cornblath D.R. Nerve conduction studies in adrenomyeloneuropathy. J. Neurol. Neurosurg. Psychiatry 1996, 61:181.
57. Comabella M., Wayne J.S., Raguer N., et al. Late-onset metachromatic leGBRodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2 + 1G&A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family. Ann. Neurol. 2001, 50:108.
58. Cosma M.P., Pepe S., Annunziata I., et al. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 2003, 113:421.
59. Couchot J., Pluot M., Schmauch M.-A., et al. La muco-sulfatidose: étude de trois cas familiaux. Arch. Fr. Pediatr. 1974, 31:775.
60. Coulter-Mackie M.B., Applegarth D.A., Toone J.R., et al. Isolated peripheral neuropathy in atypical metachromatic leGBRodystrophy: a recurrent mutation. Can. J. Neurol. Sci. 2002, 29:159.
61. Cravioto H. In vivo and in vitro studies of metachromatic leGBRodystrophy. J. Neuropathol. Exp. Neurol. 1967, 26:157.
62. Cravioto H., O'Brien J.S., Landing B.H., Finck B. Ultrastructure of peripheral nerve in metachromatic leucodystrophy. Acta Neuropathol. (Berl.) 1966, 7:111.
63. Crome L., Hanefeld F., Patrick D., Wilson J. Late onset globoid cell leGBRodystrophy. Brain 1973, 96:841.
64. Czmok E., Bischoff A., Harzer K., Benz H.O. Metachromatische LeGBRodystrophie: Klinik und intravitale Diagnostik einer familiären adulten Form der metachromatischen LeGBRodystrophie (MLD). J. Neurol. 1974, 207:189.
65. Dayan A.D. Peripheral neuropathy of metachromatic leucodystrophy: observations on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J. Neurol. Neurosurg. Psychiatry 1967, 30:311.
66. De Silva K.L, Pearce J. Neuropathy of metachromatic leGBRodystrophy. J. Neurol. Neurosurg. Psychiatry 1973, 36:30.
67. De Stefano N., Dotti M.T., Mortilla M., et al. Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease. J. Neurol. 2000, 247:226.
68. Depreter M., Espeel M.F., Roels F. Human peroxisomal disorders. Microsc. Res. Tech. 2003, 61:203.
69. Dierks T., Schmidt B., Borissenko L.V., et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 2003, 113:435.
70. Dolman C.L., MacLeod P.M., Chang E. Fine structure of cutaneous nerves in ganglioside storage disease. J. Neurol. Neurosurg. Psychiatry 1977, 40:588.
71. Duchen L.W., Eicher E.M., Jacobs J.M., et al. Hereditary leucodystrophy in the mouse: the new mutant Twitcher. Brain 1980, 103:695.
72. Dunn H.G., Lake B.D., Dolman C.L., Wilson J. The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy). Brain 1969, 92:329.
73. Dyck P.J., Gutrecht J.A., Bastron J.A., et al. Histologic and teased-fibre measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin. Proc. 1968, 43:81.
74. Edström R., Grontoft O., Sandring H. Refsum disease-three siblings, one autopsy. Acta Psychiatr. Scand. 1959, 34:39.
75. Einarson L., Neel A.V. Beitrag zur Kenntnis sklerosierender Entmarkungsprozesse im Gehirn mit besonderer Berücksichtigung der diffusen Sklerose. Acta Jutland. 1938, 10:1.
76. Elleder M. Eccrine gland involvement in Krabbe's disease. Virchows Arch. [A] 1992, 421:351.
77. Eto Y., Wiesman U., Herschkowitz N.N. Sulfogalactosylsphingosine sulfatase: characteristics of the enzyme and its deficiency in metachromatic leGBRodystrophy in human cultured skin fibroblasts. J. Biol. Chem. 1974, 249:4955.
78. Fardeau M. Pathology of Refsum disease. Peripheral Neuropathy 1984, 1693. W. B. Saunders, Philadelphia. 2nd ed. P.J. Dyck, P.K. Thomas, E.H. Lambert, R. Bunge (Eds.).
79. Fardeau M., Abelanet R., Laudat P., Bonduelle M. Maladie de Refsum: étude histologique, ultrastructurale et biochimique ďune biopsie de nerf périphérique. Rev. Neurol. (Paris) 1970, 122:185.
80. Fardeau M., Engel W.K. Ultrastructural study of a peripheral nerve biopsy in Refsum disease. J. Neuropathol. Exp. Neurol. 1969, 28:278.
81. Felice K.J., Gomez L.M., Natowicz M., et al. Adult-onset MLD: a gene mutation with isolated polyneuropathy. Neurology 2000, 55:1036.
82. Ferdinandusse S., Denis S., Clayton P.T., et al. Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat. Genet. 2000, 24:188.
83. Fischer G., Jatzkewitz H. The activator of cerebroside sulphatase: purification from human liver and identification as a protein. Hoppe-Seyler Z. Physiol. Chem. 1975, 356:605.
84. Folkerth R.D., Alroy J., Lomakina I., et al. Mucolipidosis IV: morphology and histochemistry of an autopsy case. J. Neuropathol. Exp. Neurol. 1995, 54:154.
85. Fankhauser R., Luginbühl H., Hartley W.J. LeGBRodystrophie vom Typus Krabbe beim Hund. Arch. Tierheilkd. 1963, 105:198.
86. 1 activator protein (SAP-1) in control and mutant skin fibroblasts. Biochim. Biophys. Acta 1986, 875:544.
87. Fullerton P.M. Peripheral nerve conduction in metachromatic leGBRodystrophy (sulphatide lipidosis). J. Neurol. Neurosurg. Psychiatry 1964, 27:100.
88. Gabreëls F.J.M., Lamers K., Kok K., et al. The biochemical differentiation between heterozygote carriers of metachromatic leucodystrophy and normal persons. Neuropädiatrie 1974, 2:461.
89. Gambetti P., DiMauro S., Baker L. Nervous system in Pompe's disease. J. Neuropathol. Exp. Neurol. 1971, 30:412.
90. Gärtner J., Dehmel T., Klusmann A., Roerig P. Functional characterization of the adrenoleGBRodystrophy protein (ALDP) and disease pathogenesis. Endocr. Res. 2002, 28:741.
91. Gelot A., Vallat J.M., Tabaraud F., Rocchiccioli F Axonal neuropathy and late detection of Refsum's disease. Muscle Nerve 1995, 18:667.
92. Ginsberg L., Gershfeld N. Membrane bilayer instability and the pathogenesis of disorders of myelin. Neurosci. Lett. 1991, 130:133.
93. Goebel H.H. Morphology of the gangliosidoses. Neuropediatrics 1984, 15:97.
94. Goebel H.H. Hereditary metabolic neuropathies. Zentralbl. Allg. Pathol. Pathol. Anat. 1990, 136:503.
95. Goebel H.H. Neurodegenerative diseases: biopsy diagnosis in children. Neuropathology: The Diagnostic Approach 1997, 581. Mosby, London. J.H. Garcia (Ed.).
96. Goebel H.H. Extracerebral biopsies in neurodegenerative diseases of childhood. Brain Dev. 1999, 21:435.
97. Goebel H.H., Argyrakis A., Shimokawa K., et al. Adult metachromatic leGBRodystrophy. IV. Ultrastructural studies on the central and peripheral nervous system. Eur. Neurol. 1980, 19:294.
98. Goebel H.H., Busch H.F Abnormal lipopigments and lysosomal residual bodies in metachromatic leGBRodystrophy. Lipofuscin and Ceroid Pigments 1990, 299. Plenum Press, New York. E.A. Porta (Ed.).
99. Goebel H.H., Harzer K., Ernst J.P., et al. Late-onset globoid cell leGBRodystrophy: unusual ultrastructural pathology and subtotal β-galactocerebrosidase deficiency. J. Child. Neurol. 1990, 5:299.
100. Goebel H.H., Kimura S., Harzer K., Klein H. Ultrastructural pathology of eccrine sweat gland epithelial cells in globoid cell leGBRodystrophy. J. Child. Neurol. 1993, 8:171.
101. Goebel H.H., Lenard H.G., Kohlschütter A. Morphologic and chemical biopsy findings in mucolipidosis IV. Clin. Neuropathol. 1982, 1:73.
102. Goebel H.H., Lenard H.G., Kohlschütter A. Ultramorphology of peripheral nerves in lysosomal diseases. Peripheral Neuropathies 1978, 427. Elsevier/North-Holland Biomedical Press, Amsterdam. N. Canal, G. Pozza (Eds.).
103. Goebel H.H., Lenard H.G., Utter A., Kohlschüilz H. The ultrastructure of the sural nerve in Pompe's disease. Ann. Neurol. 1977, 2:111.
104. Goebel H.H., Mole S.E., Lake B.D. The Neuronal Ceroid Lipofuscinoses (Batten Disease): Biomedical and Health Research 1999, IOS Press, Amsterdam.
105. Goebel H.H., Pilz H., Argyrakis A. Adult metachromatic leGBRodystrophy. II. Ultrastructural findings in peripheral nerve and skeletal muscle. Eur. Neurol. 1977, 15:308.
106. Goebel H.H., Stolte G., Kustermann-Kuhn B., Harzer K. B1 variant of GM2 gangliosidosis in a 12-year-old patient. Pediatr. Res. 1989, 25:89.
107. Goebel H.H., Zeman W., Patel V.K., et al. On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis. Mech. Ageing Dev. 1979, 10:53.
108. Goebel H.H., Zeman W., Pilz H. Ultrastructural investigations of peripheral nerves in neuronal ceroid-lipofuscinoses (NCL). J. Neurol. 1976, 213:295.
109. Gordon N., Hudson R.E.B. Refsum's syndrome- heredopathia atactica polyneuritiformis: a report of three cases, including a study of the cardiac pathology. Brain 1959, 82:41.
110. Graber D., Salvayre R., Levade T. Accurate differentiation of neuropathic and non-neuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J. Neurochem. 1994, 63:1060.
111. M2 gangliosidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3827. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
112. Greenfield J.G. A form of progressive cerebral sclerosis in infants associated with primary degeneration of the interfascicular glia. J. Neurol. Psychopathol. 1933, 13:289.
113. Grégoire A. Ultrastructure des inclusions métachromatiques dans un cas de leucodystrophie. J. Microsc. 1964, 3:343.
114. Grégoire A., Perier O., Dustin P.J. Metachromatic leucodystrophy, an electron microscopic study. J. Neuropathol. Exp. Neurol. 1966, 25:617.
115. Griffin J.W., Goren E., Schaumburg H.H., et al. Adrenomyeloneuropathy: a probable variant of adrenoleGBRodystrophy: I. Clinical and endocrinologic aspects. Neurology 1977, 27:1107.
116. Gumbinas M., Larson M., Liu H.M. Peripheral neuropathy in classical Niemann-Pick disease: ultrastructure of nerves and skeletal muscles. Neurology 1975, 25:107.
117. Gustavson K.H., Hagberg B. The incidence and genetics of metachromatic leGBRodystrophy in Northern Sweden. Acta Paediatr. Scand. 1971, 60:585.
118. Hagberg B. The clinical diagnosis of Krabbe's infantile leGBRodystrophy. Acta Paediatr. Scand. 1963, 52:213.
119. Hagberg B. Clinical symptoms, signs and tests in metachromatic leGBRodystrophy. Brain Lipids and Lipoproteins and the Leucodystrophies 1963, 134. Elsevier, Amsterdam. J. Folch-Pi, H.J. Bauer (Eds.).
120. Hagberg B., Kollberg H., Sourander P., &Arkesson H.O. Infantile globoid cell leGBRodystrophy (Krabbe's disease): a clinical and genetic study of 32 Swedish cases 1953-1967. Neuropädiatrie 1970, 1:74.
121. Hagberg B., Svennerholm L. Laboratory diagnostic tests in metachromatic leGBRodystrophy. Acta Paediatr. 1959, 48:632.
122. Hagberg B., Svennerholm L., Wranne B. The excretion of urinary sulfatides in health and neurological diseases. Acta Paediatr. Scand. 1965, 54:408.
123. Hahn A.F., Gilbert J.J., Kwarciak C., et al. Nerve biopsy findings in Niemann-Pick type II (NPC). Acta Neuropathol. (Berl.) 1994, 87:149.
124. Hahn A.F., Gordon B.A., Feleki V., et al. A variant form of metachromatic leGBRodystrophy without arylsulfatase deficiency. Ann. Neurol. 1982, 12:33.
125. Hahn A.F., Gordon B.A., Gilbert J.J., Hinton G.G. The AB-variant of metachromatic leGBRodystrophy (postulated activator protein deficiency): light and electron microscopic findings in a sural nerve biopsy. Acta Neuropathol. (Berl.) 1981, 55:218.
126. Haltia T., Palo J., Haltia M., Icén A. Juvenile metachromatic leGBRodystrophy: clinical, biochemical and neuropathologic studies in nine new cases. Arch. Neurol. 1980, 37:42.
127. Heinzer A.K., Watkins P.A., Lu J.F., et al. A very long-chain acyl-CoA synthase deficient mouse and its relevance to X-linked adrenoleGBRodystrophy. Hum. Mol. Genet. 2003, 12:1145.
128. Helmstaedt E.R. Über eine Beobachtung von metachromatischer LeGBRodystrophie. Dtsch. Zeitschr. Nervenheilkd. 1963, 184:21.
129. Herbert M.A., Clayton P.T Phytanic acid alpha-oxidase deficiency (Refsum disease) presenting in infancy. J. Inher. Metab. Dis. 1994, 17:211.
130. Hess B., Saftig P., Hartmann D., et al. Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leGBRodystrophy. Proc. Natl. Acad. Sci. U. S. A. 1996, 93:1.
131. Hirschhorn R., Reuser A.J.J. Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3389. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
132. Hogan G.R., Gutmann L., Chou S.M. The peripheral neuropathy of Krabbe's globoid leGBRodystrophy. Neurology 1969, 19:1094.
133. Hopwood J.H., Ballabio A. Multiple sulfatase deficiency and the nature of the sulfatase family. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3725. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
134. Hund E., Grau A., Fogel W., et al. Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J. Neurol. Sci. 1997, 145:25.
135. Ida H., Rennert O.M., Watabe K., et al. Pathological and biochemical studies of fetal Krabbe disease. Brain Dev. 1994, 16:480.
136. Igarashi M., Schaumburg H.H., Powers J.M., et al. Fatty acid abnormality in adrenoleGBRodystrophy. J. Neurochem. 1976, 26:851.
137. Igesu H., Shimomura K., Kishimoto Y, SuzGBRi K. Lipids of developing brain of twitcher mouse: an authentic murine model of Krabbe disease. Brain 1983, 106:405.
138. Introne W., Boissy E.E., Gahl W.A. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol. Genet. Metab. 1999, 68:283.
139. Ishibashi A., Tsuboi R., Shinmei M. beta;-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. Arch. Dermatol. 1984, 120:1344.
140. Jacobi M. Über LeGBRodystrophie und Pelizaeus-Merzbacher'sche Krankheit. Virchows Arch. [A] 1947, 314:460.
141. Jansen G.A., Ofman R., Ferdinandusse S., et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydrolase gene. Nat. Genet. 1997, 17:190.
142. Jardim L.B., Giugliani R., Pires R.F., et al. Protracted course of Krabbe disease in an adult patient bearing a novel mutation. Arch. Neurol. 1999, 56:1014.
143. Jatzkewitz H. Zwei Typen von Cerebrosid-Schwefelsäureestern als sog. "Prälipoide" und Speichersubstanzen bei der LeGBRodystrophie, Typ Scholz (metachromatische Form der diffusen Sklerose). Hoppe-Seyler Z. Physiol. Chem. 1958, 311:279.
144. Jatzkewitz H., Mehl E. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leucodystrophy (ML). J. Neurochem. 1969, 16:19.
145. Jerfy A., Roy A.B. The sulphatase of ox liver: XVI. A comparison of the arylsulfatase and cerebroside sulphatase activities of sulphatase A. Biochim. Biophys. Acta 1973, 293:178.
146. Joosten E., Gabreëls A., Stadhouders A., et al. Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases. Neuropädiatrie 1973, 4:98.
147. Joosten E., Hoes M., Gabreëls A., et al. Electron microscopic investigation of inclusion material in a case of adult metachromatic leGBRodystrophy: observations on kidney biopsy, peripheral nerve and cerebral white matter. Acta Neuropathol. (Berl.) 1975, 33:165.
148. Kahana D., Berant M., Wolman M. Primary familial xanthomatosis with adrenal involvement (Wolman's disease): report of a further case with nervous system involvement and pathogenetic considerations. Pediatrics 1968, 42:70.
149. Kahlke W., Richterich R. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of the lipid metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid: II. Isolation and identification of the storage product. Am. J. Med. 1965, 39:237.
150. Kamoshita S. Studies on metachromatic leucodystrophy. 2. Urine sediment examination for the diagnosis in lifetime. Acta Paediatr. Jpn. 1964, 31:16.
151. Kamoshita S., Landing B.H. Distribution of lesions in myenteric plexus and gastrointestinal mucosa in lipidoses and other neurological disorders of children. Am. J. Clin. Pathol. 1968, 49:312.
152. Karpati G., Carpenter S., Eisen A.A., et al. Multiple peripheral nerve entrapments: an unusual phenotypic variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. Arch. Neurol. 1974, 31:418.
153. Karten B., Vance D.E., Campenot R.B., Vance J.E. Cholesterol accumulates in cell bodies, but is decreased in distal axons, of Niemann-Pick C1-deficient neurons. J. Neurochem. 2002, 83:1154.
154. Karten B., Vance D.E., Campenot R.B., Vance J.E. Trafficking of cholesterol from cell bodies to distal axons in Niemann Pick C1-deficient neurons. J. Biol. Chem. 2003, 278:4168.
155. Kemp S., Pujol A., Waterham H.R., et al. ABCD1 mutations and the X-linked adrenoleGBRodystrophy mutation database: role in diagnosis and clinical correlations. Hum. Mutat. 2001, 18:499.
156. King R.A., Hearing V.J., Creel D.J., Oetting W.S. Albinism. The Metabolic and Molecular Bases of Inherited Disease 2001, 4:5587. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
157. Kishimoto Y., Moser H.W., Kawamura N., et al. AdrenoleGBRodystrophy: evidence that abnormal very long chain fatty acids of brain cholesterol esters are of exogenous origin. Biochem. Biophys. Res. Commun. 1980, 96:69.
158. Kjellson L. Refsums sjGBRdom. Nord Med 1953, 9:460.
159. Kobayashi T., Ohta M., Goto I., et al. Adult type mucolipidosis with β-galactosidase and sialidase deficiency. J. Neurol. 1979, 221:137.
160. Kobayashi T., Yamanaka T., Jacobs J.M., et al. The twitcher mouse: an enzymatically authentic model of human globoid cell leGBRodystrophy βKrabbe disease). Brain Res. 1980, 202:479.
161. Kohlschütter A., Sieg K., Schulte F.J., et al. Infantile cardiomyopathy and neuromyopathy with β-galactosidase deficiency. Eur. J. Pediatr. 1982, 139:75.
162. Kolodny E.H., Raghavan S.S., Krivit W. Late-onset Krabbe disease (globoid cell leGBRodystrophy): clinical and biochemical features of 15 cases. Dev. Neurosci. 1991, 13:232.
163. Korn-Lubetzki I., Dor-Wollman T., Soffer D., et al. Early peripheral nervous system manifestations of infantile Krabbe disease. Pediatr. Neurol. 2003, 28:115.
164. Kozutsumi Y, Kanazawa T., Sun Y, et al. Sphingolipids involved in the induction of multinuclear cell formation. Biochim. Biophys. Acta 2002, 1582:138.
165. Krabbe K A new familial infantile form of diffuse brain sclerosis. Brain 1916, 39:74.
166. Kraus-Ruppert R., Sommer H. The late form of metachromatic leGBRodystrophy II: ultrastructural correlations with morphological and neurological findings. J. Neurol. Sci. 1972, 17:383.
167. Krendel D.A., Shutter L.A., Holt P.J. Fiber type disproportion in metachromatic leGBRodystrophy. Muscle Nerve 1994, 17:1352.
168. Kristensson K., Olsson Y, Sourander P. Peripheral nerve change in Tay-Sachs and Batten-Spielmeyer-Vogt disease. Acta Pathol. Microbiol. Scand. [A] 1967, 70:630.
169. Kritzler R.A., Terner J.Y, Lindenbaum J., et al. Chédiak-Higashi syndrome: cytologic and serum lipid observations in a case and family. Am. J. Med. 1964, 36:583.
170. Krivit W., Aubourg P., Shapiro E.G., Peters C. Bone marrow transplantation for globoid cell leGBRodystrophy, adrenoleGBRodystrophy, metachromatic leGBRodystrophy, and Hurler syndrome. Curr. Opin. Hematol. 1999, 6:377.
171. Krivit W., Peters C., Shapiro E.G. Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leGBRodystrophy, metachromatic leGBRodystrophy, adrenoleGBRodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol. 1999, 12:167.
172. Kuemmel T.A., Schroeder R., Stoffel W. Light and electron microscopic analysis of the central and peripheral nervous systems of acid sphingomyelinase-deficient mice resulting from gene targeting. J. Neuropathol. Exp. Neurol. 1997, 56:171.
173. Kurtz H.J., Fletcher T.F. The peripheral neuropathy of canine globoid-cell leGBRodystrophy (Krabbe type). Acta Neuropathol. (Berl.) 1970, 16:226.
174. Lake B.D. Segmental demyelination of peripheral nerves in Krabbe's disease. Nature 1968, 217:171.
175. Landrieu P., Said G. Peripheral neuropathy in type A Niemann-Pick disease. Acta Neuropathol. (Berl.) 1984, 63:66.
176. 2-gangliosidosis variant B1 disclosed during adolescence by an isolated multi-system involvement of the central and peripheral nervous systems [in French]. Rev. Neurol. (Paris) 1994, 150:61.
177. Leitch G.J., Horrocks L.A., Samorajski T. Effects of cations on isolated bovine optic nerve myelin. J. Neurochem. 1969, 16:1347.
178. Leroy J.G., Van Elsen A., Martin J.-J. Infantile metachromatic leGBRodystrophy: confirmation of a prenatal diagnosis. N. Engl. J. Med. 1973, 288:1365.
179. Lieberman J.S., Oshtory M., Taylor R.G., Dreyfus P.M. Perinatal neuropathy as an early manifestation of Krabbe's disease. Arch. Neurol. 1980, 37:446.
180. Liu H.M. Ultrastructure of globoid leGBRodystrophy (Krabbe's disease) with reference to the origin of globoid cells. J. Neuropathol. Exp. Neurol. 1970, 29:441.
181. Lockman L.A., Kennedy W.R., White J.G. The Chédiak-Higashi syndrome. J. Pediatr. 1967, 70:942.
182. Lohse P., Maas S., Lohse P., et al. Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease. J. Lipid Res. 1999, 40:221.
183. Lohse P., Maas S., Lohse P., et al. Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J. Lipid Res. 2000, 41:23.
184. Luitjen J.A., Straks F.M.W., Blikkendaal-Liefinck L.F., et al. Metachromatic leGBRodystrophy-a comparative study of the ultrastructural findings in the peripheral nervous system in three cases, one of the late infantile, one of the juvenile and one of the adult form of the disease. Neuropädiatrie 1978, 9:338.
185. Lyon G., Evrard P. Sur la présence ďinclusions cristallines dans les cellules de Schwann dans diverse neuropathies périphériques. C. R. Acad. Sci. Paris 1970, 271:1000.
186. Lyon G., Jardin L., Aicardi J. Etude au microscope électronique d'un nerf périphérique dans un cas de leucodystrophie de Krabbe. J. Neurol. Sci. 1971, 12:263.
187. Marcaud V., Defontaines B., Jung P., Degos C.F. Refsum disease: evolution 35 years after diagnosis [in French]. Rev. Neurol. (Paris) 2002, 158:225.
188. Marjanovic B., Cvetkovic D., Dozic S., et al. Association of Krabbe leGBRodystrophy and congenital fiber type disproportion. Pediatr. Neurol. 1996, 15:79.
189. Marks H.G., Scavina M.T., Kolodny E.H., et al. Krabbe's disease presenting as a peripheral neuropathy. Muscle Nerve 1997, 20:1024.
190. Marsden D.D., Obeso J.S., Lang A.E. AdrenoleGBRomyeloneuropathy presenting as spinocerebellar degeneration. Neurology 1982, 32:1031.
191. Martin J.-J., Ceuterick C., Mercelis R., Joris C. Pathology of peripheral nerves in metachromatic leucodystrophy: a comparative study of ten cases. J. Neurol. Sci. 1982, 53:95.
192. Martin J.-J., De Barsy T., vanHoof F., Palladini G. Pompe's disease: an inborn lysosomal disorder with storage of glycogen. Acta Neuropathol. (Berl.) 1973, 23:229.
193. Martin J.-J., Leroy J.G., Ceuterick C., et al. Fetal Krabbe leGBRodystrophy: a morphologic study of two cases. Acta Neuropathol. (Berl.) 1981, 53:87.
194. Martin J.-J., Leroy J.G., Farriaux J.R., et al. I-cell disease (mucolipidosis II): a report on its pathology. Acta Neuropathol. (Berl.) 1975, 33:285.
195. Martin J.-J., Lowenthal A., Ceuterick C., Gacoms H. Adrenomyeloneuropathy: a report of two families. J. Inher. Metab. Dis. 1982, 10:339.
196. Matsumoto R., Oka N., Nagahama Y., et al. Peripheral neuropathy in late-onset Krabbe disease: histochemical and ultrastructural findings. Acta Neuropathol. (Berl.) 1996, 92:635.
197. Mazière C., Mazière J.C., Mora L., et al. Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C. J. Inher. Metab. Dis. 1987, 10:339.
198. McAlarney T., Pastores G.M., Hays A.P., Latov N. Antisulfatide antibody and neuropathy in a patient with Gaucher's disease. Neurology 1995, 45:1622.
199. McGrath J., Schutta H.S., Yaseen A., Steinberg A. A morphologic and biochemical study of canine globoid leGBRodystrophy. J. Neuropathol. Exp. Neurol. 1969, 28:171.
200. McKusick V.A., Neufeld E.F., Kelly T.E. The mucopolysaccharide storage disease. The Metabolic Basis of Inherited Disease 1978, 1282. McGraw-Hill, New York. 4th ed. J.B. Stanbury, J.B. Wyngaarden, D.S. Frederickson (Eds.).
201. Mehl E., Jatzkewitz H. Evidence for the genetic block in metachromatic leGBRodystrophy. Biochem. Biophys. Res. Commun. 1965, 19:407.
202. Melchior J.C., Clausen J. Metachromatic leucodystrophy in early childhood: treatment with a diet deficient in vitamin A. Acta Paediatr. Scand. 1968, 57:2.
203. Menkes J.H., Corbo L.M. AdrenoleGBRodystrophy: accumulation of cholesterol esters with very long chain fatty acids. Neurology 1977, 27:928.
204. Meyers J.P., Sung J.H., Cowen D., Wolf A. Pathological changes in the central and peripheral nervous system in Chédiak-Higashi disease. J. Neuropathol. Exp. Neurol. 1963, 22:357.
205. Misra V.P., King R.H.M., Harding A.E., et al. Peripheral neuropathy in Chédiak-Higashi syndrome. Acta Neuropathol. (Berl.) 1991, 81:354.
206. Miyatake T., Atsumi T., Obayashi T., et al. Adult type neuronal storage disease with neuraminidase deficiency. Ann. Neurol. 1979, 6:232.
207. Modigliani R., Lemann M., Melancon S.B., et al. Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease). Gastroenterology 1994, 106:775.
208. Moser H.W. Ceramidase deficiency: Farber's lipogranulomatosis. The Metabolic Basis of Inherited Disease 1978, 707. McGraw-Hill, New York. 4th ed. J.B. Stanbury, J.B. Wyngaarden, D.S. Fredrickson (Eds.).
209. Moser H.W., Linke T., Fensom A.H., et al. Acid ceramidase deficiency: Farber lipogranulomatosis. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3573. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
210. Moser H.W., Moser A.B., Frayer K.K., et al. AdrenoleGBRodystrophy: increased plasma content of very long chain fatty acids. Neurology 1981, 31:1241.
211. 26 fatty acids in cultured skin fibroblasts. Ann. Neurol. 1980, 7:542.
212. Moser H.W., Moser A.B., McKhann G.M. The dynamics of a lipidosis: turnover of sulfatide, steroid sulfate and polysaccharide sulfate in metachromatic leGBRodystrophy. Arch. Neurol. 1967, 17:494.
213. Moser H.W., Naidu S., Kumar A.J., Rosenblum A.E. The adrenoleGBRodystrophies. C. R. C. Crit. Rev. Neurobiol. 1987, 3:29.
214. Moser H.W., Smith K.D., Watkins P.A., et al. X-linked adrenoleGBRodystrophy. The Metabolic and Molecular Bases of Inherited Disease 2001, 2:3257. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
215. Mossakowski M., Mathieson G., Cumings J.N. On the relationship of metachromatic leGBRodystrophy and amaurotic idiocy. Brain 1961, 84:585.
216. Müller D., Pilz J., Meulen V. Studies on adult metachromatic leGBRodystrophy: 1. Clinical, morphological and histochemical observations on two cases. J. Neurol. Sci. 1969, 9:567.
217. Murphy J.V., Wolfe H.J., Balazs A.E., Moser H. A patient with deficiency of arylsulfatases A, B, C and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosamino-glycans. Lipid Storage Diseases 1971, 67. Academic Press, New York. J. Bernsohn, H.J. Grossman (Eds.).
218. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Diseases 2001, 3:3421. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
219. Nevin N.C., Cumings J.M., McKeown F. Refsum's syndrome: heredopathia atactica polyneuritiformis. Brain 1967, 90:419.
220. Nevo Y., Pestronk A., Lopate G., Carroll S.L. Neuropathy of metachromatic leGBRodystrophy: improvement with immunomodulation. Pediatr. Neurol. 1996, 15:237.
221. Nissl F. Enzyklopädie der mikroskopischen Technik. Nervensystem 1910, 284. Urban and Schwarzenberg, Berlin. 2nd ed. P. Ehrlich, R. Krause, M. Mosse (Eds.).
222. Norman R.M. Diffuse progressive metachromatic leucoencephalopathy: a form of Schilder's disease related to the lipidoses. Brain 1947, 22:234.
223. Norman R.M., Urich H., Tingey A.H. Metachromatic leucoencephalopathy: a form of lipidosis. Brain 1960, 83:369.
224. O'Brien J.S. A molecular defect of myelination. Biochem. Biophys. Res. Commun. 1964, 15:484.
225. O'Brien J.S. Stability of the myelin membrane. Science 1965, 147:1099.
226. O'Brien J.S., Sampson E.L. Myelin membrane: a molecular abnormality. Science 1965, 150:1613.
227. O'Brien J.S., Warner T.G. Sialidosis: delineation of subtypes by neuraminidase assay. Clin. Genet. 1980, 17:35.
228. Olsson R., Sourander P., Svennerholm L. Experimental studies on the pathogenesis of leucodystrophies: effect of intracerebrally injected sphingolipids in rat brain. Acta Neuropathol. (Berl.) 1966, 6:153.
229. 26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred. Neurology 1982, 32:540.
230. 26 fatty acid in cultured skin fibroblasts. Neurology 1982, 32:543.
231. O'Neill G.N., Aoki M., Brown R.H.J. ABCD1 translation-initiator mutation demonstrates genotypephenotype correlation for AMN. Neurology 2001, 57:1956.
232. Park W.D., O'Brien J.F., Lundquist P.A., et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum. Mutat. 2003, 22:313.
233. Patel V., Goebel H.H., Watanabe I., Zeman W. Studies on GM1-gangliosidosis, type II. Acta Neuropathol. (Berl.) 1974, 30:155.
234. Patrick A., Lake B.D. Deficiency of an acid lipase in Wolman's disease. Nature 1969, 222:1067.
235. Pecker J., Feuvrier Y.M., Huerou Y. Maladie de Refsum: diagnostic avec certaines polyradiculonévrites à réchutes. Rev. Neurol. (Paris) 1963, 109:39.
236. Percy K.A. Krabbe continuum or clinical conundrum?. Neurology 1997, 49:1203.
237. Percy K.A., Kaback M.M., Herndon R.M. Metachromatic leGBRodystrophy: comparison of early and late-onset forms. Neurology 1977, 27:933.
238. Peters C., Steward C.G., for the NMDP I.and the Working Party on Inborn Errors of the EBMT Hematopoietic cell transplantation for inherited metabolic disease: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 2003, 31:229.
239. Pezeshkpour G., Kurent J.S., Krarup C., et al. Peripheral neuropathy in Chédiak-Higashi syndrome. J. Neuropathol. Exp. Neurol. 1986, 45:353.
240. Pilz H. Die Sphingolipidveränderungen bei der LeGBRodystrophie Typ Krabbe im Vergleich zum akuten und chronischen sudanophilen Markzerfall. Acta Neuropathol. (Berl.) 1964, 4:16.
241. Pilz H. Late adult metachromatic leGBRodystrophy. Arch. Neurol. 1972, 27:87.
242. Pilz H., Hopf H.C. A preclinical case of late adult metachromatic leGBRodystrophy?. J. Neurol. Neurosurg. Psychiatry 1972, 33:360.
243. Pilz H., Figura K., Goebel H.H. Deficiency of arylsulfatase B in 2 brothers aged 40 and 38 years (Maroteaux-Lamy syndrome, type B). Ann. Neurol. 1979, 6:315.
244. Poulos A., Pollard A., Mitchell J.D., et al. Patterns of Refsum's disease: phytanic acid oxidase deficiency. Arch. Dis. Child. 1984, 59:222.
245. Powers J.M., DeCiero D.P., Cox C., et al. The dorsal root ganglia in adrenomyeloneuropathy: neuron atrophy and abnormal mitochondria. J. Neuropathol. Exp. Neurol. 2001, 60:493.
246. Powers J.M., Schaumburg H.H. AdrenoleGBRodystrophy: similar ultrastructural changes in adrenal cortical and Schwann cells. Arch. Neurol. 1974, 30:406.
247. Probst A., Ulrich J., Heitz P.U., Herschkowitz N.N. Adrenomyeloneuropathy: a protracted pseudosystematic variant of adrenoleGBRodystrophy. Acta Neuropathol. (Berl.) 1980, 49:108.
248. Rafi M.A., Coppola S., Liu S.L., et al. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound-the difficulties in accurately identifying patients and carriers of metachromatic leGBRodystrophy. Mol. Genet. Metab. 2003, 79:83.
249. Rampini S., Isler W., Baerlocher K., et al. Die Kombination von metachromatischer LeGBRodystrophie und MGBRopolysaccharidose als selbständiges Krankheitsbild (MGBRosulfatidose). Helv. Paediatr. Acta 1970, 25:436.
250. Reese H., Bareta J. Heredopathia atactica polyneuritiformis. J. Neuropathol. Exp. Neurol. 1950, 9:385.
251. Refsum S. Heredoataxia hemeralopica polyneuritiformis- et tidligere ikke beskrevet familiaert syndrom? Nord. Med. 1945, 28:2682.
252. Refsum S. Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. A contribution to the clinical study of the hereditary diseases of the nervous system. Acta Psychiatr. Scand. Suppl. 1946, 38:1.
253. Refsum S., Salomonsen L., Skatvedt M. Heredopathia atactica. J. Pediatr. 1949, 35:335.
254. Résibois A. Electron-microscopic study of metachromatic leucodystrophy. III. Lysosomal nature of the inclusions. Acta Neuropathol. (Berl.) 1969, 13:149.
255. Résibois-Grégoire A. Electron microscopic studies of metachromatic leucodystrophy: II. Compound nature of the inclusions. Acta Neuropathol. (Berl.) 1967, 9:244.
256. Rivel J., Vital C., Battin J., et al. La lipogranulomatose disséminée de Farber: étude anatomo-clinique et ultrastructurale, de deux observations. Arch. Anat. Cytol. Pathol. 1977, 25:37.
257. 2 gangliosidosis. J. Inher. Metab. Dis. 2001, 24:65.
258. Sandhoff K., Kolter T., Harzer K. Sphingolipid activator proteins. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3371. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
259. Schaumburg H.H., Powers J.M., Raine C.S., et al. Adrenomyeloneuropathy: a probable variant of adrenoleGBRodystrophy. II. General pathologic, neuropathologic and biochemical aspects. Neurology 1977, 27:1114.
260. Schaumburg H.H., Richardson E.P., Johnson P.C., et al. Schilder's disease: sex-linked recessive transmission with specific adrenal changes. Arch. Neurol. 1972, 27:458.
261. Schnorf H., Gitzelmann R., Bosshard N.U., et al. Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (andhoff disease). J. Neurol. Neurosurg. Psychiatry 1995, 59:520.
262. Schott B., Masson R., Quincy C., et al. Ètude clinique et biologique d'une famille de maladie de Refsum-Thiébaut. Rev. Neurol. (Paris) 1968, 118:230.
263. Schröder J.M., Sommer C. Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and a review of the literature. Acta Neuropathol. (Berl.) 1991, 82:471.
264. Schuchmann E.H., Desnick R.J. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3589. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
265. Schulte-Mattler W.J., Lindner A., Zierz S. Autonomic neuropathy in a patient with adrenomyeloneuropathy. Eur. J. Med. Res. 1996, 1:559.
266. Schutta H.S., Pratt R.T.C., Metz H., et al. A familial study of the late infantile and juvenile forms of metachromatic leucodystrophy. J. Med. Genet. 1966, 3:86.
267. Shapiro L.J., Aleck K., Kaback M.M., et al. Metachromatic leGBRodystrophy without arylsulfatase A deficiency. Pediatr. Res. 1979, 13:1179.
268. Skjeldal O.H., Stokke O., Refsum S. Phytanic acid storage disease. Peripheral Neuropathy, 3rd ed 1993, 2:1149. W. B. Saunders, Philadelphia. P.J. Dyck, P.K. Thomas, J.W. Griffin (Eds.).
269. Smith J., Zellweger H., Afifi A.K. Muscular form of glycogenosis type II (Pompe). Neurology 1967, 17:537.
270. Solders G., Celsing G., Hagenfeldt L., et al. Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leGBRodystrophy. Bone Marrow Transplant. 1998, 22:1119.
271. Sourander P., Olsson Y. Peripheral neuropathy in globoid cell leucodystrophy (Morbus Krabbe). Acta Neuropathol. (Berl.) 1968, 11:69.
272. Steinman L., Tharp B.R., Dorfman L.J., et al. Peripheral neuropathy in the cherry-red spot myoclonus syndrome (sialidosis type I). Ann. Neurol. 1980, 7:450.
273. Stevens L.R., Fluharty A.L., Kihara H., et al. Metachromatic leGBRodystrophy: a variant with apparent cerebroside sulfatase activator deficiency. Clin. Res. 1979, 27:104A.
274. Stinshof K., Jatzkewitz H. Comparison of the cerebroside sulphatase and arylsulfatase activity of human sulphatase A in the absence of activators. Biochim. Biophys. Acta 1975, 377:126.
275. Stumpf A.D., Austin H.J. Qualitative and quantitative differences in sulfatase A in different forms of classical metachromatic leGBRodystrophy. Lipid Storage Disease 1971, 203. Academic Press, New York. J. Bernsohn, H.J. Grossman (Eds.).
276. Sugita M., Dulaney J.T., Moser H.W. Ceramidase deficiency in Farber's disease (lipogranulomatosis). Science 1972, 78:1100.
277. Sung J.H., Meyers J.P., Stadlan E.M., et al. Neuropathological changes in Chédiak-Higashi disease. J. Neuropathol. Exp. Neurol. 1969, 28:86.
278. SuzGBRi K., Proia R.L., SuzGBRi K. Mouse models of human lysosomal diseases. Brain Pathol. 1998, 8:195.
279. SuzGBRi K., SuzGBRi K., Chen G.C. Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leGBRodystrophy. J. Neuropathol. Exp. Neurol. 1967, 26:537.
280. SuzGBRi K., SuzGBRi Y. Galactosylceramide lipidosis: globoid cell leGBRodystrophy (Krabbe disease). The Metabolic Basis of Inherited Disease 1978, 747. McGraw-Hill, New York. 4th ed. J.B. Stanbury, J.B. Wyngaarden, D.S. Frederickson (Eds.).
281. M1 gangliosidosis and Morquio B disease. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3775. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
282. Takano H., Koike R., Onodera O., Tsuji S. Mutational analysis of X-linked adrenoleGBRodystrophy gene. Cell Biochem. Biophys. 2000, 32:177.
283. Tan E.K., Lim S.H., Chan L.L., et al. X-linked adrenoleGBRodystrophy: spinocerebellar variant. Clin. Neurol. Neurosurg. 1999, 101:137.
284. Thieffry S., Lyon G. Diagnostic ďun cas de leucodystrophie métachromatique (type Scholz) par la biopsie ďun nerf périphérique. Rev. Neurol. (Paris) 1959, 100:452.
285. Thieffry S., Lyon G., Maroteaux P. Leucodystrophie métachromatique (sulfatidose) et mucopolysaccharidose associées chez un měme malade. Rev. Neurol. (Paris) 1966, 114:193.
286. Thomas P.K. The ultrastructural pathology of unmyelinated nerve fibres. New Developments in Electromyography and Clinical Neurophysiology 1973, 2:227. S. Karger, Basel. J.E. Desmedt (Ed.).
287. Thomas P.K. Central and peripheral demyelination. Myélopathies, Neuropathies et Myopathies 1989, 141. Expansion Scientifique Française, Paris. G. Serratrice, J.-F. Pellissier, D. Desnuell, J. Pouget (Eds.).
288. Thomas P.K., Harding A.E. Peripheral neuropathies. The Principles and Practice of Medical Genetics 1990, 413. Churchill Livingstone, Edinburgh. 2nd ed. A.E.H. Emery, D.L. Rimoin (Eds.).
289. Thomas P.K., King R.H.M., Chiang T.R., et al. Neurofibromatous neuropathy. Muscle Nerve 1990, 13:93.
290. Thomas P.K, King R.H.M., Kocen R.S., Brett E.M. Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leGBRodystrophy. Acta Neuropathol. (Berl.) 1977, 39:237.
291. Thomas P.K., Lascelles R.G. Hypertrophic neuropathy. Q. J. Med. 1967, 36:223.
292. Thomas P.K., Young E.P., King R.H.M. Sandhoff disease mimicking adult-onset bulbospinal neuropathy. J. Neurol. Neurosurg. Psychiatry 1989, 52:1103.
293. Toga M., Bernard-Badier M., Pinsard N., et al. Étude clinique, histologique et ultrastructurale de quatre cas de leucodystrophie métachromatique infantile et juvénile. Acta Neuropathol. (Berl.) 1972, 21:23.
294. Torvik A., Torp S., Kase B.F., et al. Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination. J. Neurol. Sci. 1988, 85:39.
295. Tsuji S., Ohno T., Miyatake T., et al. Fatty acid elongation activity in fibroblasts from patients with adrenoleGBRodystrophy (ALD). J. Biochem. (Tokyo) 1984, 96:1241.
296. Turazzini M., Beltramello A., Bassi R., et al. Adult onset Krabbe's leGBRodystrophy: a report of 2 cases. Acta Neurol. Scand. 1997, 96:413.
297. vanBogaert L., vanMechelen P., Martin J.-J., Guazzi G.C. Sur la neuropathologie de la maladie de Refsum-Thiébaut (protocole de ľobservation de Richterich, Kahlke, van Mechelen et Ross, 1963). Rev. Neurol. (Paris) 1990, 116:611.
298. van den Brink D.M., Brites P., Haasjes J., et al. Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Med. Genet. 2003, 72:471.
299. Van der Hagen C.B., Børreson A.L., Molne K., et al. Metachromatic leGBRodystrophy I: Prenatal detection of arylsulphatase A deficiency. Clin. Genet. 1973, 4:256.
300. vanGeel B.M, Assies J., Weverling G.J., Barth P.G. Predominance of the adrenomyeloneuropathy phenotype of X-linked adrenoleGBRodystrophy in The Netherlands: a survey of 30 kindreds. Neurology 1994, 44:2343.
301. vanGeel B.M, Koelman J.H., Barth P.G., de Visser B.W. Peripheral nerve abnormalities in adrenomyeloneuropathy: clinical and electrodiagnostic study. Neurology 1996, 46:112.
302. Vanier M.T., Millat G. Niemann-Pick disease type C. Clin Genet 2003, 64:269.
303. Vasconcellos E., Smith M. MRI nerve root enhancement in Krabbe disease. Pediatr. Neurol. 1998, 19:151.
304. Veltema A.N., Verjaal A. Sur un cas ď hérédopathie ataxique polynévritique: maladie de Refsum. Rev. Neurol. (Paris) 1961, 104:15.
305. Vital C., Battin J., Rivel J., Heunstre J.P. Aspects ultrastructuraux des lésions du nerf périphérique dans un cas de maladie de Farber. Rev. Neurol. (Paris) 1976, 132:419.
306. von Figura K., Gieselmann V., Jaeken J. Metachromatic leGBRodystrophy. The Metabolic and Molecular Bases of Inherited Disease 2001, 3:3695. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
307. Walter S., Goebel H.H. Ultrastructural pathology of dermal axons and Schwann cells in lysosomal diseases. Acta Neuropathol. (Berl.) 1988, 76:489.
308. Wanders R.J., Jakobs C., Skjedal O.H. Refsum disease. The Metabolic and Molecular Bases Inherited Disease 2001, 2:3303. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
309. Wanders R.J., Jansen G.A., Lloyd M.D. Phytanic acid alpha-oxidation: new insights into an old problem. A review. Biochim. Biophys. Acta 2003, 1631:119.
310. Wanders R.J.A., Roermund C.W.T., Wijland M.J.A., et al. Peroxisomal very long chain fatty acid beta oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders. Clin. Chim. Acta 1987, 166:255.
311. Ward D.M., Shiflett S.L., Kaplan J.-C. Chédiak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. Curr. Mol. Med. 2002, 2:469.
312. Webster H.de F. Schwann cell alteration in metachromatic leucodystrophy: preliminary phase and electron microscopic observations. J. Neuropathol. Exp. Neurol. 1962, 21:534.
313. Weis G.M., Nelson R.L., O'Neill B.P., et al. Use of adrenal biopsy in diagnosing adrenoleGBRomyeloneuropathy. Arch. Neurol. 1980, 37:634.
314. Weller R.O. An electron microscope study of hypertrophic neuropathy of Dejerine and Sottas. J. Neurol. Neurosurg. Psychiatry 1967, 30:111.
315. Weller R.O., Cervós-Navarro J. Pathology of Peripheral Nerves 1977, Butterworth, London.
316. Wenger D.A., Rafi M.A., Luzi P. Molecular genetics of Krabbe disease (globoid cell leGBRodystrophy): diagnostic and clinical implications. Hum. Mutat. 1997, 10:268.
317. Wenger D.A., Rafi M.A., Luzi P., et al. Krabbe disease: genetic aspects and progress toward therapy. Mol. Genet. Metab. 2000, 70:1.
318. Wierzbicki A.S., Lloyd M.D., Schofield C.J., et al. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J. Neurochem. 2002, 80:727.
319. Wierzbicki A.S., Mitchell J., Lambert-Hammill M., et al. Identification of genetic heterogeneity in Refsum's disease. Eur. J. Hum. Genet. 2000, 8:649.
320. Wilken B., Dechent P., Brockmann K., et al. Quantitative proton magnetic resonance spectroscopy of children with adrenoleGBRodystrophy before and after hematopoietic stem cell transplantation. Neuropediatrics 2003, 34:237.
321. Wilson J., Lake B.D., Dunn H.G. Krabbe's leGBRodystrophy: some clinical, genetic and pathogenetic considerations. J. Neurol. Sci. 1970, 10:541.
322. Witte F. Über pathologische Abbauvorgänge im Zentralnervensystem. Münch. Med. Wochenschr. 1921, 68:69.
323. Yudell A., Gomez M.R., Lambert E.H., Dockerty M.B. The neuropathy of sulfatide lipidosis (metachromatic leGBRodystrophy). Neurology 1967, 17:103.
324. Yunis E.J., Lee R.E. The ultrastructure of globoid (Krabbe) leGBRodystrophy. Lab. Invest. 1969, 21:415.
325. Zhang X.-L., Rafi M.A., DeGala G., Wenger D.A. Insertion of the mRNA of a metachromatic leGBRodystrophy patient with sphingolipid activator protein-I deficiency. Proc. Natl. Acad. Sci. U. S. A. 1990, 87:1426.