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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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Spinal Muscular Atrophy
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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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Sydenham Chorea
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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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A Floppy Child with Failure to Thrive
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Aromatic L-Amino Acid Decarboxylase Deficiency
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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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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
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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