Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by mass spectrometry (MS)/MS. Newbor...

Descripción completa

Detalles Bibliográficos
Autores principales: Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo
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/PMC8898721/
https://www.ncbi.nlm.nih.gov/pubmed/35281663
http://dx.doi.org/10.1002/jmd2.12265

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898721/
https://www.ncbi.nlm.nih.gov/pubmed/35281663
http://dx.doi.org/10.1002/jmd2.12265

Ejemplares similares