A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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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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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Acid Maltase Deficiency
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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Fucosidosis Revisited:A Review of 77 Patients
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Neuroimaging Features of Biotinidase Deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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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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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Inborn Errors of Urea Synthesis
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Genetic Diagnosis of Gaucher's Disease
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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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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Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
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Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
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Neurological Manifestations of Fabry Disease in Female Carriers
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