An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family

por Puente, Nuria, Vega, Ana I., Hernandez, José L., Fernandez-Luna, Jose L., Riancho, Jose A.
Publicado 2022

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

por Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Publicado 2017

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

por Santurtún, Maite, Mediavilla-Martinez, Eva, Vega, Ana I., Gallego, Natalia, Heath, Karen E., Tenorio, Jair A., Lapunzina, Pablo, Riancho-Zarrabeitia, Leyre, Riancho, José A.
Publicado 2022