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Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake
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Extreme Insulin Resistance in Ataxia Telangiectasia
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Basa Ganglia Calcifications (Fahrs Syndrome): Related Conditions and Clinical Features
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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A 63-Year-Old Woman with Urinary Incontinence and Progressive Gait Disorder
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Coma in a Young Anorexic Woman
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Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease
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The Biology of Developmental Dyslexia
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Preclinical Detection of Parkinson's Disease
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Clinical & Laboratory Findings in the Oculocerebrorenal Syndrome of Lowe, with Special Ref to Growth & Renal Function
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
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The Marinesco-Sjogren Syndrome Examined by CT, MR, and 18F-2-Fluoro-2-Deoxy-D-Glucose & PET
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The Combined Use of Positron Emission Tomography & DNA Polymorphisms for Preclinical Detection of Huntington's Disease
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Clinical & Biochemical Aspects of Trichopoliodystrophy
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Peripheral Neuropathy in Myotonic Dystrophy
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Reversible Cerebellocerebral Disorder in Primary Hemochromatosis
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