Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due to maternal use of pivaloylester‐containing antibiotics, av...

Descripción completa

Detalles Bibliográficos
Autores principales: Murko, Simona, Aseman, Asra Dadkhah, Reinhardt, Friederike, Gramer, Gwendolyn, Okun, Jürgen Günther, Mütze, Ulrike, Santer, René
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830014/
https://www.ncbi.nlm.nih.gov/pubmed/36636590
http://dx.doi.org/10.1002/jmd2.12345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830014/
https://www.ncbi.nlm.nih.gov/pubmed/36636590
http://dx.doi.org/10.1002/jmd2.12345

Ejemplares similares