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Biochimica Et Biophysica Acta. General Subjects|July 27, 2020
New and potential strategies for the treatment of PMM2-CDGAlejandra Gámez, Mercedes Serrano, Diana Gallego, et al.Journal of Inherited Metabolic Disease|December 3, 2021
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structuresAlvaro Briso-Montiano, Francisco Del Caño-Ochoa, Alicia Vilas, et al.Human Mutation|July 5, 2022
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperonesCristina Segovia-Falquina, Alicia Vilas, Fátima Leal, et al.Molecular Genetics and Metabolism|August 3, 2024
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluationAlicia Vilas, Álvaro Briso-Montiano, Cristina Segovia-Falquina, et al.Pageof 1