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Chediak-Higashi Syndrome: Pathognomonic Feature
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
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Genetic Diagnosis of Gaucher's Disease
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More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
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Neurologic Crises in Hereditary Tyrosinemia
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
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Hematologic Disorders and Ischemic Stroke
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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