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

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

Abstract 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)/M...

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Bibliographic Details
Main Authors: Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:JIMD Reports
Subjects:
inborn error of metabolism
neonatal screening
tandem mass spectrometry
Online Access:https://doi.org/10.1002/jmd2.12265

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