The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.

Lee, Kristen N; Uhlmann, Wendy; Hipp, Lauren; Quinonez, Shane C

Lee, Kristen N; Uhlmann, Wendy; Hipp, Lauren; Quinonez, Shane C.

Afiliação

Lee KN; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, 24 Frank Lloyd Wright Dr., GPS: 4029 Ave Maria Drive Lobby C, Suite 1300 Ann Arbor, 48105 Ann Arbor, MI, USA.
Uhlmann W; Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, 1500 East Medical Center Drive, D5240 MPB/Box 5718, 48109-5718 Ann Arbor, MI, USA.
Hipp L; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, 24 Frank Lloyd Wright Dr., GPS: 4029 Ave Maria Drive Lobby C, Suite 1300 Ann Arbor, 48105 Ann Arbor, MI, USA.
Quinonez SC; Department of Human Genetics, University of Michigan, 4909 Buhl Building, 1241 E. Catherine St., 48109-5618 Ann Arbor, MI, USA.

Mol Genet Metab Rep ; 25: 100653, 2020 Dec.

Article em En | MEDLINE | ID: mdl-33072517

Palavras-chave

Adult genetics; Diagnostic rate; Inborn errors of metabolism; Medical genetics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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