A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Authors: Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium

Source: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-6 (2017)

Subject Terms: Cerebellum, Congenital disorders of glycosylation, Developmental disorders, Gait disorders/ataxia, ICARS, MRI, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0707-0; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4c9c403fb4bb417a95c034a61cf6a37c

Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

Authors: Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano

Source: Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/0568809a129f48fbad0bdc994d49c60e