A Young Man with Progressive Subcortical Lesions and Optic Nerve Atrophy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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MRI in Methylmalonic Acidemia
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Malignant Hyperthermia, Update on Susceptibility Testing
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Acute Extrapyramidal Syndrome in Methylmalonic Acidemia:"Metabolic Stroke"Involving the Globus Pallidus
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Bilateral Lucency of the Globus Pallidus Complicating Methylmalonic Acidemia
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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