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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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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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Cognitive Delay in a 7-year-old Girl
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The Autosomal Recessive Cerebellar Ataxias
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Human Cerebellar Hypoplasia, A Syndrome of Diverse Causes
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Clinicopathologic Conference, Infant Botulism, Case 3-2024
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A Teenager with Shortness of Breath and Difficulty Walking
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Fulminant Encephalopathy with Unusual Brain Imaging in Disulfiram Toxicity
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Huntington Disease: Clinical Features and Diagnosis
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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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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Transsection of the Spinal Cord Associated with Breech Delivery
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MR of Progressive Neurodegenerative Change in Treated Menkes'Kinky Hair Disease
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Alternating Hemiplegia of Childhood
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
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