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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Neuroimaging Features of Biotinidase Deficiency
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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, Galactosemia
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Fabry Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Dopamine, Dystonia, and the Deficient Co-Factor
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Genetic Diagnosis of Gaucher's Disease
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Fucosidosis Revisited:A Review of 77 Patients
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Neurologic Crises in Hereditary Tyrosinemia
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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The Cherry-red Spot-Myoclonus Syndrome
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Neurological Manifestations of Fabry Disease in Female Carriers
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Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
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Chronic Hexosaminidase A & B Deficiency
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