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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Pyruvate Dehydrogenase Deficiency (PDCD)
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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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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Clinicopath Conf, Infantile Krabbe Disease
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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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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Brain Imaging in Late-Onset CM2 Gangliosidosis
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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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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Fucosidosis Revisited:A Review of 77 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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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
Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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Neurologic Outcome in Children with Inborn Errors of Urea Synthesis
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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