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Aicardi-Gouti�res Syndrome
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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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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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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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
Cognitive Delay in a 7-year-old Girl
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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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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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A Floppy Child with Failure to Thrive
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Infantile Neuroaxonal Dystrophy,Clinical Spectrum and Diagnostic Criteria
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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