Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Genetic Diagnosis of Gaucher's Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopath Conf, Infantile Krabbe Disease
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Dopamine, Dystonia, and the Deficient Co-Factor
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Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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