Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish ne...
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
About this item
Full title
Author / Creator
Navarrete, Rosa , Leal, Fátima , Vega, Ana I. , Morais-López, Ana , Garcia-Silva, María Teresa , Martín-Hernández, Elena , Quijada-Fraile, Pilar , Bergua, Ana , Vives, Inmaculada , García-Jiménez, Inmaculada , Yahyaoui, Raquel , Pedrón-Giner, Consuelo , Belanger-Quintana, Amaya , Stanescu, Sinziana , Cañedo, Elvira , García-Campos, Oscar , Bueno-Delgado, María , Delgado-Pecellín, Carmen , Vitoria, Isidro , Rausell, María Dolores , Balmaseda, Elena , Couce, Mari Luz , Desviat, Lourdes R. , Merinero, Begoña , Rodríguez-Pombo, Pilar , Ugarte, Magdalena , Pérez-Cerdá, Celia and Pérez, Belén
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
Authors, Artists and Contributors
Author / Creator
Leal, Fátima
Vega, Ana I.
Morais-López, Ana
Garcia-Silva, María Teresa
Martín-Hernández, Elena
Quijada-Fraile, Pilar
Bergua, Ana
Vives, Inmaculada
García-Jiménez, Inmaculada
Yahyaoui, Raquel
Pedrón-Giner, Consuelo
Belanger-Quintana, Amaya
Stanescu, Sinziana
Cañedo, Elvira
García-Campos, Oscar
Bueno-Delgado, María
Delgado-Pecellín, Carmen
Vitoria, Isidro
Rausell, María Dolores
Balmaseda, Elena
Couce, Mari Luz
Desviat, Lourdes R.
Merinero, Begoña
Rodríguez-Pombo, Pilar
Ugarte, Magdalena
Pérez-Cerdá, Celia
Pérez, Belén
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460639
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6460639
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0330-0
