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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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The Autosomal Recessive Cerebellar Ataxias
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Spinal Muscular Atrophy
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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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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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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The Cerebrohepatorenal (Zellweger) Syndrome
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Cerebro-ocular Dysgenesis (Walker-Warberg Syndrome) :Neuropathologic & Etiologic Analysis
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Ultrastructural, Neurological, & Glycosaminoglycan Abnormalities in Lowe's Syndrome
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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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