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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Congenital Cytomegalovirus Infection
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The Autosomal Recessive Cerebellar Ataxias
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Glycogen-Storage Disease Type II
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A Floppy Child with Failure to Thrive
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Aromatic L-Amino Acid Decarboxylase Deficiency
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A Clinical Study of Noonan Syndrome
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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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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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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