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Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant, N M; Leydiker, K; Wilnai, Y; Lee, C; Lorey, F; Feuchtbaum, L; Tang, H; Carter, J; Enns, G M; Packman, S; Lin, H J; Wilcox, W R; Cederbaum, S D; Abdenur, J E.
Afiliação
  • Gallant NM; Division of Genetic and Genomic Medicine, University of California, Irvine, Irvine, CA, United States; Department of Pediatrics, University of California, Irvine, Irvine, CA, United States; Stramski Children's Developmental Center, Miller Children's and Women's Hospital, Long Beach, CA, United State
  • Leydiker K; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, United States.
  • Wilnai Y; Lucile Packard Children's Hospital, Division of Medical Genetics, Stanford University Medical Center, Stanford, CA, United States.
  • Lee C; Lucile Packard Children's Hospital, Division of Medical Genetics, Stanford University Medical Center, Stanford, CA, United States.
  • Lorey F; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, United States.
  • Feuchtbaum L; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, United States.
  • Tang H; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, United States.
  • Carter J; Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, United States.
  • Enns GM; Lucile Packard Children's Hospital, Division of Medical Genetics, Stanford University Medical Center, Stanford, CA, United States.
  • Packman S; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, United States.
  • Lin HJ; Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center and Los Angeles Biomedical Research Institute, Torrance, CA, United States.
  • Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, United States.
  • Cederbaum SD; Department of Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States; Intellectual and Developmental Disabilities Research Center at UCLA, Los Angeles, CA, United States; Semel Institute for Neuroscience, UCLA, Los Angeles, CA, United States.
  • Abdenur JE; Department of Pediatrics, University of California, Irvine, Irvine, CA, United States; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, CA, United States. Electronic address: jabdenur@choc.org.
Mol Genet Metab ; 122(3): 76-84, 2017 11.
Article em En | MEDLINE | ID: mdl-28711408
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carnitina / Triagem Neonatal / Hiperamonemia / Doenças Musculares / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: America do norte Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Carnitina / Triagem Neonatal / Hiperamonemia / Doenças Musculares / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: America do norte Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article