Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Niemann-Pick Disease Type C from Bench to Bedside
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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