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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Pyruvate Dehydrogenase Deficiency (PDCD)
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A Case of Ataxia, Seizure, and Choreoathetosis in a 34-year-old Woman
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Huntington Disease: Clinical Features and Diagnosis
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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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Rett Syndrome:Natural History and Management
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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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Alternating Hemiplegia of Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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The Neuropathy of Acute Intermittent Porphyria
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