Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in <i>UROC1</i>.

Glinton, Kevin E; Levy, Harvey L; Kennedy, Adam D; Pappan, Kirk L; Elsea, Sarah H

Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1.

Glinton, Kevin E; Levy, Harvey L; Kennedy, Adam D; Pappan, Kirk L; Elsea, Sarah H.

Afiliación

Glinton KE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Levy HL; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kennedy AD; Metabolon, Inc., Morrisville, NC, USA.
Pappan KL; Metabolon, Inc., Morrisville, NC, USA.
Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Mol Genet Metab Rep ; 18: 14-18, 2019 Mar.

Article en En | MEDLINE | ID: mdl-30619714

Palabras clave

Cis-urocanate; Imidazole propionate; Trans-urocanate; UROC1; Untargeted metabolomics; Urocanic aciduria

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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