Found: 3

Select item for more details and to access through your institution.

  • Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

    Published in:
    Human Molecular Genetics, 2013, v. 22, n. 18, p. 3680, doi. 10.1093/hmg/ddt217
    By:
    • Jorge-Finnigan, Ana;
    • Brasil, Sandra;
    • Underhaug, Jarl;
    • Ruíz-Sala, Pedro;
    • Merinero, Begoña;
    • Banerjee, Ruma;
    • Desviat, Lourdes R.;
    • Ugarte, Magdalena;
    • Martinez, Aurora;
    • Pérez, Belén
    Publication type:
    Article

  • Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2022, v. 35, n. 10, p. 1223, doi. 10.1515/jpem-2022-0340
    By:
    • Martín-Rivada, Álvaro;
    • Cambra Conejero, Ana;
    • Martín-Hernández, Elena;
    • Moráis López, Ana;
    • Bélanger-Quintana, Amaya;
    • Cañedo Villarroya, Elvira;
    • Quijada-Fraile, Pilar;
    • Bellusci, Marcelo;
    • Chumillas Calzada, Silvia;
    • Bergua Martínez, Ana;
    • Stanescu, Sinziana;
    • Martínez-Pardo Casanova, Mercedes;
    • Ruíz-Sala, Pedro;
    • Ugarte, Magdalena;
    • Pérez González, Belén;
    • Pedrón-Giner, Consuelo
    Publication type:
    Article

  • Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 1811, doi. 10.3390/jcm8111811
    By:
    • Bravo-Alonso, Irene;
    • Navarrete, Rosa;
    • Vega, Ana Isabel;
    • Ruíz-Sala, Pedro;
    • García Silva, María Teresa;
    • Martín-Hernández, Elena;
    • Quijada-Fraile, Pilar;
    • Belanger-Quintana, Amaya;
    • Stanescu, Sinziana;
    • Bueno, María;
    • Vitoria, Isidro;
    • Toledo, Laura;
    • Couce, María Luz;
    • García-Jiménez, Inmaculada;
    • Ramos-Ruiz, Ricardo;
    • Martín, Miguel Ángel;
    • Desviat, Lourdes R.;
    • Ugarte, Magdalena;
    • Pérez-Cerdá, Celia;
    • Merinero, Begoña
    Publication type:
    Article