TY  - JOUR
AU  - Navarrete, Rosa
AU  - Leal, Fatima
AU  - Vega, Ana I
AU  - Morais-Lopez, Ana
AU  - Garcia-Silva, Maria Teresa
AU  - Martin-Hernandez, Elena
AU  - Quijada-Fraile, Pilar
AU  - Bergua, Ana
AU  - Vives, Inmaculada
AU  - Garcia-Jimenez, Inmaculada
AU  - Yahyaoui, Raquel
AU  - Pedron-Giner, Consuelo
AU  - Belanger-Quintana, Amaya
AU  - Stanescu, Sinziana
AU  - Cañedo, Elvira
AU  - Garcia-Campos, Oscar
AU  - Bueno-Delgado, Maria
AU  - Delgado-Pecellin, Carmen
AU  - Vitoria, Isidro
AU  - Rausell, Maria Dolores
AU  - Balmaseda, Elena
AU  - Couce, Mari Luz
AU  - Desviat, Lourdes R
AU  - Merinero, Begoña
AU  - Rodriguez-Pombo, Pilar
AU  - Ugarte, Magdalena
AU  - Perez-Cerda, Celia
AU  - Perez, Belen
PY  - 2019
DO  - 10.1038/s41431-018-0330-0
UR  - http://hdl.handle.net/10668/13404
T2  - European journal of human genetics : EJHG
AB  - 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...
LA  - en
PB  - Nature Publishing Group
KW  - Lipid Metabolism, Inborn Errors
KW  - Metabolism, Inborn Errors
KW  - Mutation
KW  - Neonatal Screening
KW  - Exome
KW  - Genetic Testing
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant, Newborn
KW  - Spain
KW  - Exome Sequencing
TI  - Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
TY  - research article
VL  - 27
ER  -