Insight on molecular pathogenesis and pharmacochaperoning potential in Phosphomannomutase 2 (PMM2) deficiency, provided by novel human PMM2 structures.
Alvaro Briso-MontianoFrancisco Del Caño-OchoaAlicia VilasAdrian Velázquez-CampoyVicente RubioBelén PérezSantiago Ramón-MaiquesPublished in: Journal of inherited metabolic disease (2021)