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Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopath Conf, Infantile Krabbe Disease
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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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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
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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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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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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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Glycine Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Inborn Errors of Urea Synthesis
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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
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Biochemical Evidence Of Dysfunction Of Brain Neurotransmitters In The Lesch-Nyhan Syndrome
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Late Adult-onset Metachromatic Leukodystrophy
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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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Specificity of the Urine Inhibitor Test for Leigh's Disease
Neurol 24:885, Pincus,J.H.,et al, 1974
Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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Subacute Necrotizing Encephalopathy in Late Adolescence
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