5 documents found, page 1 of 1
A Participatory Framework for Plain Language Clinical Management Guideline Deve...
Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, AndreaSandra Brasil was supported by CDG & Allies—PPAIN funding. Publisher Copyright: © 2022 by the authors.; Background: Clinical management guidelines (CMGs) are decision support tools for patient care used by professionals, patients, and family caregivers. Since clinical experts develop numerous CMGs, their technical language hinders comprehension and access by nonmedical stakeholders. Additionally, the views of a...
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG)
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahP. W. is supported by the Clinical Research Fund, University Hospitals Leuven, Leuven, Belgium. This work is partially funded by the grant titled Frontiers in Congenital Disorders of Glycosylation (1U54NS115198-01) from the National Institute of Neurological Diseases and Stroke (NINDS), the National Center for Advancing Translational Sciences (NCATS), and the Rare Disorders Consortium Research Network (RDCRN) (...
International clinical guidelines for the management of phosphomannomutase 2-co...
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, AnnaWe would like to thank the Metabolic ERN (MetabERN) for their support to our study.; Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limite...
CDG therapies: from bench to bedside
Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Marques-da-Silva, Dorinda; Andreotti, Giuseppina; Videira, Paula A.; Morava, Eva; Jaeken, JaakSFRH/BD/124326/2016; Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from ...
Public and patient involvement in needs assessment and social innovation
De Freitas, Cláudia; Dos Reis, Vanessa; Silva, Susana; Videira, Paula A.; Morava, Eva; Jaeken, JaakSem PDF. POPH Programme (SFRH/BPD/111344/ 2015 (CF); IF/01674/2015 (SS)); Background: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive...