6 documents found, page 1 of 1
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG)
Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.We would like to express our gratitude to the all CDG patient organizations and professionals who actively partnered with us in conducting this community-centered research led by the CDG & Allies \u2013 Patient Advocacy and International Research Network. We would also like to acknowledge the support of MetaBERN and FCDGC, as well as other CDG patient organizations worldwide, namely CDG Care, CDG Mexico, and Si...
Resilience in patients and family caregivers living with congenital disorders o...
Poejo, Joana; Gomes, Ana Isabel; Granjo, Pedro; dos Reis Ferreira, VanessaFunding Information: We would like to express our deepest gratitude for the invaluable financial support received from collective donations made by families affected by CDG and professionals in the field. Furthermore, we wish to acknowledge the substantial commitment of voluntary time given by numerous members from the CDG & Allies-PPAIN. Their dedication and collaboration were instrumental in the completion of...
A Community-Based Participatory Framework to Co-Develop Patient Education Mater...
Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria GraziaFunding Information: Dorinda da Silva acknowledge the funding from LA/P/0045/2020 (ALiCE), funded by national funds through FCT/MCTES (PIDDAC). Pedro Granjo was supported by CDG & Allies funding. Cláudia de Freitas acknowledges funding from the Foundation for Science and Technology-FCT under the Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR) (LA/P/0064/2020), the individ...
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...
Artificial Intelligence in Epigenetic Studies
Brasil, Sandra; Neves, Cátia José; Rijoff, Tatiana; Falcão, Marta; Valadão, Gonçalo; Videira, Paula A.; dos Reis Ferreira, VanessaFunding Information: Funding. This work was supported by the CDG Professionals and Patient Associations International Network (CDG & Allies ?PPAIN) and Portuguese Association for Congenital Disorders of Glycosylation (APCDG). The authors confirmed independence from any sponsors.; More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment....
An electronic questionnaire for liver assessment in congenital disorders of gly...
Marques-da-Silva, Dorinda; Francisco, Rita; dos Reis Ferreira, Vanessa; Forbat, Liz; Lagoa, Ricardo; Videira, Paula A.; Witters, Peter; Jaeken, JaakDorinda Marques-da-Silva acknowledges the support from the Rare Disease Foundation’s microgrant and ‘Liliana Scientific Scholarship’; Rita Francisco acknowledges Fundação para a Ciência e Tecnologia for the grant SFRH/BD/124326/2016 awarded to her.; Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono-to multi-organ/multisystem involvement. L...