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Acute Profound Dystonia in Infants with Glutaric Acidemia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopath Conf, Infantile Krabbe Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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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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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
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