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Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota, Brian J; Donti, Taraka R; Xiao, Jing; Gijavanekar, Charul; Kennedy, Adam D; Hubert, Leroy; Rodan, Lance; Vanderpluym, Christina; Nowak, Catherine; Bjornsson, Hans T; Ganetzky, Rebecca; Berry, Gerard T; Pappan, Kirk L; Sutton, V Reid; Sun, Qin; Elsea, Sarah H.
Afiliação
  • Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Donti TR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Xiao J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Gijavanekar C; Baylor Genetics, Houston, TX, USA.
  • Kennedy AD; Metabolon, Inc., Durham, NC, USA.
  • Hubert L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Vanderpluym C; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
  • Nowak C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Bjornsson HT; McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Landspitali University Hospital, Reykjavik, Iceland.
  • Ganetzky R; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
  • Pappan KL; Metabolon, Inc., Durham, NC, USA.
  • Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
  • Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA. Electronic address: elsea@bcm.edu.
Mol Genet Metab ; 131(1-2): 147-154, 2020.
Article em En | MEDLINE | ID: mdl-32828637
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transaldolase / Transcetolase / Erros Inatos do Metabolismo dos Carboidratos / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transaldolase / Transcetolase / Erros Inatos do Metabolismo dos Carboidratos / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos