Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
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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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Molybdenum Cofactor Deficiency
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Congenital AIDS:Review of Neurological Problems
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Neurological Complications in Infants & Children with Acquired Immune Deficiency Syndrome
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The Phenotypic Continuum of ATP1A3-Related Disorders
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Congenital Cytomegalovirus Infection
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An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
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Computed Tomographic Findings in Microcephaly Associated with Zika Virus
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Congenital Zika Virus Syndrome in Brazil: A Case Series of the first 1501 livebirths with complete investigation
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CNS Involvement at the Onset of Primary Hemophagocytic Lymphohistiocytosis
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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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Aicardi-Gouti�res Syndrome
Br Med Bull 89:183-201, Orcesi, S.,et al, 2009
Leukotriene C4-synthesis Deficiency:A New Inborn Error of Metabolism Linked to a Fatal Developmental Syndrome
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Angelman Syndrome: Clinical Profile
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Brain and Ocular Abnormalities in Infants with In Utero Exposure to Cocaine and other Street Drugs
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Magnetic Resonance Imaging of the Brain in Congenital Rubella Virus and Cytomegalovirus Infections
Neuroradiology 33:239-242, Sugita,K.,et al, 1991
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
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Pediatric Acquired Immunodefieiency Syndrome
Am J Dis Child 142:29-35, Belman,A.L.,et al, 1988
Difference Between Herpes Simplex Virus Type I & Type 2 Neonatal Encephalitis in Neurological Outcome
Lancet 1:1-4, Corey,L.,et al, 1988
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
A Progressive Syndrome of Autism, Dementia, Ataxia, & Loss of Purposeful Hand Use in Girls:Rett's Syndrome
Ann Neurol 14:471-491, Hagberg,B., 1983
Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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