Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.

Quinonez, Shane C; Seeley, Andrea H; Seeterlin, Mary; Stanley, Eleanor; Ahmad, Ayesha

Quinonez, Shane C; Seeley, Andrea H; Seeterlin, Mary; Stanley, Eleanor; Ahmad, Ayesha.

Afiliación

Quinonez SC; University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA.
Seeley AH; University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA.
Seeterlin M; Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI 48906, USA.
Stanley E; Newborn Screening Section, Michigan Department of Community Health, Bureau of Laboratories, Chemistry and Toxicology, 3350 N. MLK Jr. Blvd., Lansing, MI 48906, USA.
Ahmad A; University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA.

Mol Genet Metab Rep ; 1: 345-349, 2014.

Article en En | MEDLINE | ID: mdl-27896107

Palabras clave

Citrulline; DLD deficiency; Maple syrup urine disease; Newborn screening; Second-tier testing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Rep Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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