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A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Neuroimaging Features of Biotinidase Deficiency
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Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
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Aromatic L-Amino Acid Decarboxylase Deficiency
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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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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Fucosidosis Revisited:A Review of 77 Patients
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Enzyme Replacement in Nervous Tissue After Allogeneic Bone-Marrow Transplantation for Fucosidoisis in Dogs
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea Synthesis
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Late Adult-onset Metachromatic Leukodystrophy
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Possible Biochemical Basis of Memory Disorder in Alzheimer Disease
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Adult-onset GM2 Gangliosidosis
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Neurological Manifestations of Fabry Disease in Female Carriers
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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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