TY  - GEN 
AU  - Soriano-Sexto, A.
AU  - Gallego, D.
AU  - Leal, F.
AU  - Castejón-Fernández, N.
AU  - Navarrete, R.
AU  - Alcaide, P.
AU  - Couce Pico, María Luz
AU  - Martín-Hernández, E.
AU  - Quijada-Fraile, P.
AU  - Peña-Quintana, L.
AU  - Yahyaoui, R.
AU  - Correcher, P.
AU  - Ugarte, M.
AU  - Rodríguez-Pombo, P.
AU  - Pérez, B.
PY  - 2022
SN  - 1422-0067
UR  - http://hdl.handle.net/20.500.11940/20729
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  - eng
TI  - Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
DO  - 10.3390/ijms232112850
KW  - AS Santiago
KW  - CHUS
KW  - IDIS
VL  - 23
ER  -