TRASTORNOS CONGÉNITOS DEL METABOLISMO
Ikerbasque, Fundación Vasca para la Ciencia
Bilbao, EspañaPublications en collaboration avec des chercheurs de Ikerbasque, Fundación Vasca para la Ciencia (2)
2021
-
MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution
Molecular Genetics and Metabolism Reports, Vol. 26
2020
-
Brain circuit alterations and cognitive disability in late-onset cobalamin d disorder
Journal of Clinical Medicine, Vol. 9, Núm. 4