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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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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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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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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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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Acid Maltase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
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