Ontology highlight
ABSTRACT:
SUBMITTER: Navarrete R
PROVIDER: S-EPMC6460639 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Navarrete Rosa R Leal Fátima F Vega Ana I AI Morais-López Ana A Garcia-Silva María Teresa MT Martín-Hernández Elena E Quijada-Fraile Pilar P Bergua Ana A Vives Inmaculada I García-Jiménez Inmaculada I Yahyaoui Raquel R Pedrón-Giner Consuelo C Belanger-Quintana Amaya A Stanescu Sinziana S Cañedo Elvira E García-Campos Oscar O Bueno-Delgado María M Delgado-Pecellín Carmen C Vitoria Isidro I Rausell María Dolores MD Balmaseda Elena E Couce Mari Luz ML Desviat Lourdes R LR Merinero Begoña B Rodríguez-Pombo Pilar P Ugarte Magdalena M Pérez-Cerdá Celia C Pérez Belén B
European journal of human genetics : EJHG 20190109 4
The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA samples were analyzed by next-generation sequencing using a customized exome sequencing panel. When required, the Illumina extended clinical exome panel was used, as was Sanger sequencing or transcriptional profiling. Biochemical tests were used to c ...[more]