García Sánchez, Verónica - Search Results - UAB Digital Repository of Documents

Search collections:

Sort by:	Display results:	Output format:

Results overview: Found 1 records in 0.02 seconds.
Articles, 1 records found

Articles	1 records found

12 p, 2.2 MB

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress : a cross-sectional study / Epifani, Florencia (Hospital Sant Joan de Déu) ; Pujol Serra, Susana María (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Llorens, Marta (Hospital Sant Joan de Déu) ; Balcells, Sol (Institut de Recerca Sant Joan de Déu) ; Nolasco, Gregorio (Hospital Sant Joan de Déu) ; Bolasell, Mercè (Hospital Sant Joan de Déu) ; Aguilera-Albesa, Sergio (Hospital Universitario de Navarra) ; Cancho Candela, Ramon (Hospital Universitario Rio Hortega) ; Cuevas Cervera, José Luis (Hospital Universitario de Jaén) ; García Sánchez, Verónica (Hospital Universitario Puerto Real) ; Garcia, Oscar (Hospital Universitario Virgen de la Salud (Toledo)) ; Miranda-Herrero, María Concepción (Hospital General Universitario Gregorio Marañón) ; Moreno-Lozano, Pedro J. (Hospital Clínic i Provincial de Barcelona) ; Robles, Bernabé (Hospital de Sant Boi) ; Roldán Aparicio, Susana (Hospital Virgen de las Nieves (Granada, Andalusia)) ; Velázquez Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ; Serrano, Mercedes (Instituto de Salud Carlos III) ; Universitat Autònoma de Barcelona
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. [...]
2023 - DOI (Digital Object Identifier)

10.1038/s41598-023-49518-y
Scientific reports, Vol. 13 (december 2023)

Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.