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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Challenging Diagnosis of Gerstmann-Straussler-Scheinker Disease
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Neuromyelitis Optica Spectrum Disorders
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Aicardi-Gouti�res Syndrome
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Fatal Avian Influenza A (H5N1) in a Child Presenting with Diarrhea Followed by Coma
NEJM 352:686-691, de Jong,M.D., et al, 2005
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
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Niemann-Pick Disease Type C from Bench to Bedside
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Choroido-Cerebral Calcification Syndrome with Retardation
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Recurrent Meningitis in a Patient with Congenital Deficiency of the C9 Component of Complement
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A Surgical Approach To The Treatment Of Fetal Hydrocephalus
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Placement Of Ventriculo-Amniotic Shunt For Hydrocephalus In A Fetus
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Nerve-Growth Factor in Familial Dysautonomia
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Hepatolenticular Degeneration (Wilson Disease)
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Recurrent Acroparaesthesia During Febrile Infections
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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Anticonvulsant Hypersensitivity Syndrome
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Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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