The Phenotypic Continuum of ATP1A3-Related Disorders
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Aicardi-Gouti�res Syndrome
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Congenital Cytomegalovirus Infection
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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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A Neonate with Micrognathia and Hypotonia
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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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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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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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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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Globoid cells, Glial nodules, & Peculiar Fibrillary Changes in the cerebro-hepato-renal Syndrome of Zellweger
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A Toddler with Acute-Onset Hypotonia, Areflexia, and Ataxia
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Spinal Muscular Atrophy
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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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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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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy
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Cognitive Delay in a 7-year-old Girl
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Epilepsy in Children with Infantile Thiamine Deficiency
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The Floppy Infant: Evaluation of Hypotonia
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Presentation of Narcolepsy After 40
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Prader-Willi and Angelman Syndromes
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Dipsticks and Convulsions
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Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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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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Fucosidosis Revisited:A Review of 77 Patients
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Congenital Inflammatory Myopathy
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Physical Features of Prader-Willi Syndrome in Neonates
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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A Disorder of Azonal Development, Necrotizing Myopathy, Cardiomyopathy, and Cataracts:A New Familial Disease
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