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Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders.
Burrage, Lindsay C; Thistlethwaite, Lillian; Stroup, Bridget M; Sun, Qin; Miller, Marcus J; Nagamani, Sandesh C S; Craigen, William; Scaglia, Fernando; Sutton, V Reid; Graham, Brett; Kennedy, Adam D; Milosavljevic, Aleksandar; Lee, Brendan H; Elsea, Sarah H.
Afiliação
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. burrage@bcm.edu.
  • Thistlethwaite L; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
  • Stroup BM; Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA.
  • Sun Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Miller MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Nagamani SCS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Craigen W; Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Sutton VR; Texas Children's Hospital, Houston, TX, USA.
  • Graham B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Kennedy AD; Texas Children's Hospital, Houston, TX, USA.
  • Milosavljevic A; Texas Children's Hospital, Houston, TX, USA.
  • Lee BH; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, SAR, Hong Kong.
  • Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Genet Med ; 21(9): 1977-1986, 2019 09.
Article em En | MEDLINE | ID: mdl-30670878
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biomarcadores / Metabolômica / Distúrbios Congênitos do Ciclo da Ureia / Erros Inatos do Metabolismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Biomarcadores / Metabolômica / Distúrbios Congênitos do Ciclo da Ureia / Erros Inatos do Metabolismo Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos