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Glycogen-Storage Disease Type II
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Familial X-linked Addison Dise. as an Expression of Adrenoleukodystr. :C26 Fatty Acid in Cult. Skin Fibroblasts
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