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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Glycogen-Storage Disease Type II
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997
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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Adult-Onset Metachromatic Leukodystrophy Presenting as Isolated Peripheral Neuropathy
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Late Onset Globoid Cell Leukodystrophy
JNNP 54:1011-1012, Grewal,R.P.,et al, 1991
Cerebrovascular Disease in Ehlers-Danlos Syndrome Type IV
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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