A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Clinicopath Conf, Infantile Krabbe Disease
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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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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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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Neuroimaging Features of Biotinidase Deficiency
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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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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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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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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Coma in a Young Anorexic Woman
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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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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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
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Brain Imaging in Late-Onset CM2 Gangliosidosis
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Glucose-Induced Exertional Fatigue in Muscle Phosphofructokinase Deficiency
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Late Onset Globoid Cell Leukodystrophy
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Adult Phosphorylase b Kinase Deficiency
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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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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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Glycine Encephalopathy
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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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