TY  - JOUR
AU  - Bravo-Alonso, Irene
AU  - Navarrete, Rosa
AU  - Vega, Ana Isabel
AU  - Ruíz-Sala, Pedro
AU  - García Silva, María Teresa
AU  - Martín-Hernández, Elena
AU  - Quijada-Fraile, Pilar
AU  - Belanger-Quintana, Amaya
AU  - Stanescu, Sinziana
AU  - Bueno, María
AU  - Vitoria, Isidro
AU  - Toledo, Laura
AU  - Couce, María Luz
AU  - García-Jiménez, Inmaculada
AU  - Ramos-Ruiz, Ricardo
AU  - Martín, Miguel Ángel
AU  - Desviat, Lourdes R
AU  - Ugarte, Magdalena
AU  - Pérez-Cerdá, Celia
AU  - Merinero, Begoña
AU  - Pérez, Belén
AU  - Rodríguez-Pombo, Pilar
PY  - 2019
DO  - 10.3390/jcm8111811
SN  - 2077-0383
UR  - https://hdl.handle.net/10668/27441
T2  - Journal of clinical medicine
AB  - Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the...
LA  - en
KW  - RNA analysis
KW  - antisense therapy for mitochondrial disorders
KW  - clinical-exome sequencing
KW  - congenital lactic acidosis
KW  - healthcare
KW  - metabolomics datasets
KW  - mitochondrial dysfunction
KW  - mitochondrial morphology
TI  - Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
TY  - research article
VL  - 8
ER  -