The Phenotypic Continuum of ATP1A3-Related Disorders
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Congenital Cytomegalovirus Infection
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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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, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Neuroimaging Changes in Menkes Disease, Part 1
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Neonatal Abstinence Syndrome
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Molybdenum Cofactor Deficiency
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Cognitive Delay in a 7-year-old Girl
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Clinical Reasoning: Encephalopathy in a 10-year-old boy
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Megaloencephalic Leukoencephalopathy With Subcortical Cysts (Van der Knaap Disease)
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GFAP Mutations, Age at Onset, and Clinical Subtypes in Alexander Disease
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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
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The Expanding Phenotype of GLUT1-Deficiency Syndrome
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Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
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Clinicopath Conf., MELAS Syndrome
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Mutations in the Molybdenum Cofactor Biosynthetic Genes MOCS1, MOCS2, and GEPH
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Prader-Willi and Angelman Syndromes
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The Epilepsy of Trisomy 9p
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Mitochondrial DNA and Disease
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
TORCH Infections in the Newborn
Semin Neurol 13:106-115, Donley,D.K., 1993
Congenital Central Hypoventilation Syndrome:Diagnosis, Management, and Long-Term Outcome in Thirty-Two Children
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Hypomelanosis of Ito
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Causal Heterogeneity in Isolated Lissencephaly
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Outlook for the Child with a Cephalocele
Pediatrics 90:914-919, Brown,M.S.,et al, 1992
Angelman Syndrome: Clinical Profile
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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Perinatal Loss and Neurological Abnormalities Among Children of the Atomic Bomb
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Difference Between Herpes Simplex Virus Type I & Type 2 Neonatal Encephalitis in Neurological Outcome
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Neonatal Brain Tumors:CT & MR Findings
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Diagnostic Criteria for Rett Syndrome
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Neurologic Manifestations of the Organoid Nevus Syndrome
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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Alexander's Disease, A Disease of Astrocytes
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Human Cytomegalovirus Infection & Disorders of the Nervous System
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Schizencephaly:A Clinical & CT Study
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Familial Porencephaly
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