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A Young Woman with Rapidly Progressive Weakness and Paresthesia
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A Neonate with Micrognathia and Hypotonia
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The Autosomal Recessive Cerebellar Ataxias
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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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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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Spinal Muscular Atrophy
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A Teenager with Shortness of Breath and Difficulty Walking
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Hypotonia and Delayed Teeth Eruption in a 2-Year-Old Girl
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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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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Epilepsy in Children with Infantile Thiamine Deficiency
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Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Human Botulism Immune Globulin for the Treatment of Infant Botulism
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Case 35-2006: A Newborn Boy with Hypotonia
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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Congenital Muscular Dystrophy with Rigid Spine Syndrome:A Clinical, Pathological, Radiological, and Genetic Study
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Early Severe Infantile Botulism
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Transsection of the Spinal Cord Associated with Breech Delivery
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Neonatal Idiopathic Cerebral Venous Thrombosis:An Unrecognized Cause of Transient Seizures or Lethargy
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Causal Heterogeneity in Isolated Lissencephaly
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A Clinical Study of Noonan Syndrome
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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The Spectrum of Lissencephaly:Report of Ten Patients Analyzed by Magnetic Resonance Imaging
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Infant Botulism:A Review of 12 Years'Experience at the Children; s Hosp of Phila
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Fucosidosis Revisited:A Review of 77 Patients
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Central Core Disease, Clinical Features in 13 Patients
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Alternating Hemiplegia of Childhood
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