Inherited Metabolic Diseases of the Nervous System, Adrenoleukodystrophy
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Glycogen-Storage Disease Type II
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Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Adult-Onset Metachromatic Leukodystrophy Presenting as Isolated Peripheral Neuropathy
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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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