TY  - JOUR
AU  - Soriano-Sexto, Alejandro
AU  - Gallego, Diana
AU  - Leal, Fátima
AU  - Castejón-Fernández, Natalia
AU  - Navarrete, Rosa
AU  - Alcaide, Patricia
AU  - Couce, María L
AU  - Martín-Hernández, Elena
AU  - Quijada-Fraile, Pilar
AU  - Peña-Quintana, Luis
AU  - Yahyaoui, Raquel
AU  - Correcher, Patricia
AU  - Ugarte, Magdalena
AU  - Rodríguez-Pombo, Pilar
AU  - Pérez, Belén
PY  - 2022
DO  - 10.3390/ijms232112850
UR  - http://hdl.handle.net/10668/21206
T2  - International journal of molecular sciences
AB  - Inborn errors of metabolism (IEM) constitute a huge group of rare diseases affecting 1 in every 1000 newborns. Next-generation sequencing has transformed the diagnosis of IEM, leading to its proposed use as a second-tier technology for confirming...
LA  - en
KW  - allelic expression imbalance
KW  - differential gene expression
KW  - inherited metabolic disorders
KW  - multi-omics
KW  - targeted transcriptomics
KW  - Infant, Newborn
KW  - Humans
KW  - Exome
KW  - Exome Sequencing
KW  - Maple Syrup Urine Disease
KW  - Metabolism, Inborn Errors
KW  - Neonatal Screening
TI  - Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
TY  - research article
VL  - 23
ER  -