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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Glycogen-Storage Disease Type II
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Dopamine, Dystonia, and the Deficient Co-Factor
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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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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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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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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Phosphorylase 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
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
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Neurological Manifestations of Fabry Disease in Female Carriers
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Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
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