Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.

Grünert, Sarah C; Wehrle, A; Villavicencio-Lorini, P; Lausch, E; Vetter, B; Schwab, K O; Tucci, S; Spiekerkoetter, U

Grünert, Sarah C; Wehrle, A; Villavicencio-Lorini, P; Lausch, E; Vetter, B; Schwab, K O; Tucci, S; Spiekerkoetter, U.

Afiliação

Grünert SC; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.
Wehrle A; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. anika.wehrle@uniklinik-freiburg.de.
Villavicencio-Lorini P; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. pablo.lorini@uk-halle.de.
Lausch E; Present address: Department of Human Genetics, Halle University Hospital, Ernst-Grube-Str. 30, 06097, Halle, Germany. pablo.lorini@uk-halle.de.
Vetter B; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. ekkehart.lausch@uniklinik-freiburg.de.
Schwab KO; , Römerstrasse 38, 79423, Heitersheim, Germany. britta.bade@gmx.de.
Tucci S; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. karl.otfried.schwab@uniklinik-freiburg.de.
Spiekerkoetter U; Center of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstraße 1, 79106, Freiburg, Germany. sara.tucci@uniklinik-freiburg.de.

BMC Med Genet ; 16: 56, 2015 Jul 30.

Article em En | MEDLINE | ID: mdl-26223887

Assuntos

Acil-CoA Desidrogenase/deficiência; Acil-CoA Desidrogenase/genética; Erros Inatos do Metabolismo Lipídico/genética; Mutação de Sentido Incorreto/genética; Triagem Neonatal/métodos; Isoformas de Proteínas/genética; Análise Mutacional de DNA; Primers do DNA/genética; Feminino; Alemanha; Humanos; Recém-Nascido; Linhagem; Polimorfismo de Nucleotídeo Único/genética; Irmãos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Isoformas de Proteínas / Mutação de Sentido Incorreto / Acil-CoA Desidrogenase / Erros Inatos do Metabolismo Lipídico Tipo de estudo: Diagnostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Newborn País/Região como assunto: Europa Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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