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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Brain Imaging in Late-Onset CM2 Gangliosidosis
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Neuroimaging Features of Biotinidase Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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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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Coma in a Young Anorexic Woman
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Hallervorden-Spatz Disease:Cysteine Accumulation & Cysteine Dioxygenase Deficiency in the Globus Palladus
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Spinal Cord Compression by Extramedullary Hemopoietic Tissue in Pyruvate-Kinase-Deficiency-Caused Hemolytic Anemia
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Glycine Encephalopathy
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Adult-onset GM2 Gangliosidosis
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Specificity of the Urine Inhibitor Test for Leigh's Disease
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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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