TY  - JOUR 
AU  - Epifani, Florencia
AU  - Pujol Serra, Susana María
AU  - Llorens, Marta
AU  - Balcells, Sol
AU  - Nolasco, Gregorio
AU  - Bolasell, Mercè
AU  - Aguilera-Albesa, Sergio
AU  - Cuevas Cervera, José Luis
AU  - García Sánchez, Verónica
AU  - Garcia, Oscar
AU  - Miranda-Herrero, María Concepción
AU  - Moreno-Lozano, Pedro J.
AU  - Robles, Bernabé
AU  - Roldán Aparicio, Susana
AU  - Velázquez Fragua, Ramón
AU  - Serrano, Mercedes
AU  - Cancho Candela, Ramon
PY  - 2023
UR  - https://uvadoc.uva.es/handle/10324/64480
AB  - Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria,
and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains
unknown. Our study explores the adaptive profile of 37...
LA  - spa
TI  - Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study
DO  - 10.1038/s41598-023-49518-y
ER  -