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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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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Neurological Findings in Aminoacylase 1 Deficiency
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Neurologic Crises in Hereditary Tyrosinemia
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Subacute Necrotizing Encephalopathy in Late Adolescence
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