Reviews And Selected Updates

Crochey AC, Farber S: Niemann-Pick disease: A review of 18 patients. Medicine 1958;37:1. Dyken P: The neuronal ceroid-lipofuscinoses. J Child Neurol 1989;4:165- 174.

Dyken P, Wisniewski K: Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms. Am J Med Genet 1995; 57:150-154. Engel AG, Dale AJ: Glycogenosis of late onset with mitochondrial abnormalities. Proc Staff Mayo Clin 1968;43:233-279. Moser HW: Pathogenetic mechanisms in peroxisomal disorders. Curr Opin Neurol 1996;9:473-476.

Swaiman K: Diseases associated with primary abnormalities in carbohydrate metabolism. In Swaiman K (ed): Pediatric Neurology: Principles and Practice, 2nd ed. Vol 2. St. Louis, Mosby, 1994, p 1253.



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2. Boustany RN: Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types. Am j Med Genet 1992;42:533-535

3. Prasad VTS, Prelarkat KK: Report on the Fifth International Conference on Neuronal Ceroid-Lipofuscinoses. Am j Med Genet 1995;57:125-127

4. Dyken PR: Reconsideration of the classification of the neuronal ceroid-lipofuscinoses. Am j Med Genet Suppl 1988;5:69-84

5. Berkovic SF, Carpenter S, Andermann F, et al: Kufs disease: A critical reappraisal. Brain 1988;111:27-62

6. Andermann E: Autosomal dominant forms of neuronal ceroid lipofuscinosis: Nine families reported. Fifth International Symposium on Neuronal Ceroid-Lipofuscinosis, Newark NJ, May 19-21, 199 4.

7. Dyken PR, Bastian F, Nelson G, et al: Purkinje cell accumulation of lipopigments confirming a spinocerebellar degeneration due to neuronal ceroid-lipofuscinosis. Proc Child Neurol Soc 1989;18:236

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14. Suzuki K: Neuropathology of late onset gangliosidosis: A review. Rev Neurosci 1991;13:205-210

15. Uyama E, Terasaki T, Watanabe S, et al: Type 3 GM1 gangliosidosis: Characteristic MRI findings correlated with dystonia. Acta Neurol Scand 1992;86:609-615

16. Schulte FJ: Clinical course of GM2 gangliosidosis: A correlative attempt. Neuropediatrics 1984;15:66-70

17. Rapin I, Suzuki K, Valsamis M: Adult (chronic) GM.MDSD/ 2.MDNM/ gangliosidosis: Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976;33:120-130

18. Oates CE, Bosch EP, Hart MN: Movement disorders associated with chronic GM2 gangliosidosis: Case report and review of the literature. Eur Neurol 1986;25:154-159

19. Karni A, Navon R, Sadeh M: Hexosaminidase A deficiency manifesting on spinal muscular atrophy of late onset. Ann Neurol 1988;24:451-453

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24. Kamoshita S, Aron AM, Suzuki K: Infantile Niemann-Pick disease: A chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Am j Dis Child 1969;117:379-394

25. Crochey AC, Farber S: Niemann-Pick disease: A review of 18 patients. Medicine 1958;37:1

26. Soffer D, Yamanaka T, Wenger DA, et al: Central nervous system involvement in adult-onset Gaucher's disease. Acta Neuropathol 1980;49:1-6

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29. Lowry RB, Renwick DH: Relative frequency of Hurler and Hunter syndromes. n Engl j Med 1971;284:221-222

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33. Leroy JG, DeMars R: Mutant enzymatic and cytological phenotypes in cultured human fibroblasts. Science 1967;157:804

34. Rapin I, Goldfischer S, Katzman R, et al: The cherry-red spot--myoclonus syndrome. Ann Neurol 1978;3:234-242

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36. Cori GT, Cori CF: Glucose-6-phosphatase of the liver in glycogen storage disease. j Biol Chem 1952;199:661

37. Smith H, Amich LD, Sedburg J: Type II glycogenosis. Am j Dis Child 1966;11:475

38. Smith J, Zellweger H, Afifi AK: Muscular form of glycogenosis type II (Pompe): Report of a case with unusual features. Neurology 1967;17:537-549

39. Engel AG, Dale AJ: Autophagic glycogenosis of late onset with mitochondrial abnormalities: Light and electron microscopic observations. Proc Staff Mayo Clinic 1968;43:233-279

40. Tarui S, Okuno G, Ikura Y: Phosphofructose deficiency in skeletal muscle: A new type of glycogenosis. Biochem Biophys Res Commun 1965;19:512

41. Hug G, Schubert WK, Chuck G: Deficient activity of dephosphorylase kinase and accumulation of glycogen in liver. j Clin Invest 1969;48:704-715

42. Satoyoshi E, Kowa H: A myopathy due to glycolytic abnormality. Arch Neurol 1967;17:248-256

43. Thomson WHS, MacLaurin JC, Princos JW: Skeletal muscle glycogenosis: an investigation of two dissimilar cases. j Neurol Neurosurg Psychiat 1963;26:60

44. Bresolin N, Ro YI, Reyes M, et al: Muscle phosphoglycerate mutase (PGAM) deficiency: A second case. Neurology 1983;3:1049-1053

45. Tonin P, Shanske S, Miranda AF, et al: Phosphoglycerate kinase deficiency: Biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta). Neurology 1993;43:387-391

46. Tsujino S, Shanske S, Sakoda S, et al: The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet 1993;52:472-477

47. Martiniuk F, Bodkin M, Tzall S, Hirschhorn R: Isolation and partial characterization of the structural gene for human acid -glucosidase. DNA Cell Biol 1991;10:283-292

48. Hoefsloot LH, Vander Ploeg AT, Kroos MA, et al: Adult and infantile glycogenosis type II in one family, explained by allelic diversity. Am J Hum Genet 1990;46:45-52

49. Servidei S, Bonilla E, Diedrich RG, et al: Fatal infantile form of muscle phosphofructokinase deficiency. Neurology 1986;36:1465- 1470

50. Fernandes J, Huijing F: Branching enzyme deficiency glycogenesis: Studies in therapy. Arch Dis Child 1968;43:347-352

51. Viskoper RJ, Wolf E, Chaco J, et al: McArdle's syndrome: The reaction to a fat-rich diet. Am J Med Sci 1975;269:217-221

52. Seitelberger F: Pelizaeus-Merzbacher disease. In Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology. New York, Elsevier, 1970, pp 150-20 2.

53. Fishman M: Disorders primarily of white matter. In Swaiman K (ed): Pediatric Neurology: Principles and Practice, 2nd ed. Vol. 2. St Louis, Mosby, 1994, pp 999-10 17.

54. Merzbacher L: Eine eigenartige familiare Erknanbunsform (Aplosia extracorticalis congenita). z Neurol Psychiatr 1910;3:1-138

55. Koeppen AH, Ronca NA, Greenfield EA, Hans MB: Defective biosynthesis of proteinolipid protein in Pelizaeus-Merzbacher disease. Ann Neurol 1987;21:159-170

56. Garg BP, Markand ON, DeMeyer WE: Usefulness of BAER studies in the early diagnosis of Pelizaeus-Merzbacher disease. Neurology 1983;33:955-956

57. Penner MW, Li KC, Gebarski SS, Allen RJ: MR imaging of Pelizaeus- Merzbacher disease. J Comput Assist Tomograph 1987;11:591-593

58. Dabbagh O, Swaiman K: Cockayne syndrome: MRI correlates of hypomyelination. Pediat Neurol 1988;4:113-116

59. Brumback RA, Yoder FW, Andrews AD, et al: Normal pressure hydrocephalus (recognition and relationship to neurological abnormalities in Cockayne's syndrome). Arch Neurol 1978;35:337-345

60. Seil FJ, Schochet SS, Earle KM: Alexander's disease in an adult. Arch Neurol 1968;19:494-502

61. Ozand PT, Gascon GG, Dholla M: Aspartoacylase deficiency and Canavan disease in Saudi Arabia. J Med Genet 1990;35:266-268

62. Gascon GG, Ozand PT, Mahdi A, et al: Infantile CNS spongy degeneration--14 cases. Clinical update. Neurology 1990;40:1876- 188..

63. Hogan GR, Richardson ED: Spongy degeneration of the nervous system (Canavan's disease). Report of a case in an Irish-American family. Pediatrics 1965;35:28 4.

64. Matalon R, Michals K, Sebesta D, et al: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988;29:463-471

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67. Lake BD: Segmental demyelination of peripheral nerves in Krabbe's disease. Nature 1968;217:171-172

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69. Lyon G, Hagberg B, Evrard P, et al: Symptomatology of late onset

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