Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Navarrete, Rosa

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. [electronic resource] - European journal of human genetics : EJHG 04 2019 - 556-562 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-018-0330-0 doi


Exome--genetics
Genetic Testing
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Lipid Metabolism, Inborn Errors--diagnosis
Metabolism, Inborn Errors--diagnosis
Mutation--genetics
Neonatal Screening
Spain--epidemiology
Exome Sequencing