Clinicopath Conf, Infantile Krabbe Disease
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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, Tay Sachs 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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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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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Inherited Metabolic Diseases of the Nervous System, Inherited Hypeammonemia
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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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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Glycogen-Storage Disease Type II
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Clumsiness, Confusion, Coma, and Valproate
Lancet 353:1408, Ellaway,C.J.,et al, 1999
Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
Ann Int Med 120:216-217, Wong,L-J.C.,et al, 1994
Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989
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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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Cerebellar Hemorrhage Complication Methylmalonic & Propionic Acidemia
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Fatal Infantile Form of Muscle Phosphorylase Deficiency
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Neurological Manifestations of Fabry Disease in Female Carriers
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