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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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Congenital Cytomegalovirus Infection
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Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Inherited Metabolic Diseases of the Nervous System, Biopterine Deficiency
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The Autosomal Recessive Cerebellar Ataxias
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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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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Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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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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