A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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, Galactosemia
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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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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
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
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Coma in a Young Anorexic Woman
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Clumsiness, Confusion, Coma, and Valproate
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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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Dopamine, Dystonia, and the Deficient Co-Factor
Lancet 345:1130, Williams,A.C., 1995
Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Inborn Errors of Urea Synthesis
Ann Neurol 35:133-141, Batshaw,M.L., 1994
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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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Fucosidosis Revisited:A Review of 77 Patients
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
JNNP 53:76-78, Fiorelli,M.,et al, 1990
Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
NEJM 322:1652-1669, Arn,P.H.,et al, 1990
Acute Profound Dystonia in Infants with Glutaric Acidemia
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Adrenoleukodystrophy:Dietary Oleic Acid Lowers Hexacosanoate Levels
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A New Dietary Therapy for Adrenoleukodystrophy:Biochemical & Preliminary Clinical Results in 36 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
Ann Neurol 22:498-506, DiMauro,S.,et al, 1987
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
NEJM 310:1500-1505, Msall,M.,et al, 1984
Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
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Detection of Urea Cycle Enzymopathies in Childhood
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Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
NEJM 305:1106-1111, Lloyd,K.G.,et al, 1981
Late Adult-onset Metachromatic Leukodystrophy
Arch Neurol 35:475, Bosch,E.P., 1978
Glycine Encephalopathy
NEJM 298:687, Ch'ien,L.T., 1978
Adult-onset GM2 Gangliosidosis
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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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