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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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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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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, Lipogranulomatosis (Farber Disease)
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Clinicopath Conf, Infantile Krabbe Disease
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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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Glycogen-Storage Disease Type II
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Recurrent Acroparaesthesia During Febrile Infections
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Brain Imaging in Late-Onset CM2 Gangliosidosis
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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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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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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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Late Adult-onset Metachromatic Leukodystrophy
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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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Chronic Hexosaminidase A & B Deficiency
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Neuropathology of Sanfilippo Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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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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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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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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Clumsiness, Confusion, Coma, and Valproate
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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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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Dopamine, Dystonia, and the Deficient Co-Factor
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