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Huntington Disease: Clinical Features and Diagnosis
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Postoperative Neurologic Complications after Open Heart Surgery on Young Infants
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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Central Core Disease, Clinical Features in 13 Patients
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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A Teenager with Shortness of Breath and Difficulty Walking
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Neonate with Micrognathia and Hypotonia
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Cognitive Delay in a 7-year-old Girl
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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The Neuropathy of Acute Intermittent Porphyria
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