Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Autor: V. dos Reis Ferreira, Dorinda Marques-da-Silva, D. Webster, Rita Francisco, Thomas Pulinilkunnil, Jaak Jaeken

Publikováno v: Journal of Inherited Metabolic Disease. 40:657-672

Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6b7276d196eaf7727a4f3e7025079f
https://doi.org/10.1007/s10545-017-0066-y

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

Autor: Jaak Jaeken, David Cassiman, Rita Francisco, Ricardo Lagoa, Liz Forbat, Dorinda Marques-da-Silva, V. dos Reis Ferreira, Paula A. Videira, Peter Witters

Publikováno v: JIMD Reports ISBN: 9783662586167

Dorinda 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2c99516352194228bf5fc3681488f2f
https://pubmed.ncbi.nlm.nih.gov/30008170

A community-centric model for conference co-creation: the world conference on CDG for patients, families and professionals.

Autor: Francisco R; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Pascoal C; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Granjo P; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., de Freitas C; Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), Porto, Portugal.; EPIUnit - Instituto de Saúde Pública, Universidade do Porto, Porto, Portugal.; Centre for Research and Studies in Sociology, University Institute of Lisbon (ISCTE-IUL), Lisboa, Portugal., Videira PA; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. p.videira@fct.unl.pt., Dos Reis Ferreira V; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. sindromecdg@gmail.com.

Publikováno v: Research involvement and engagement [Res Involv Engagem] 2024 Oct 23; Vol. 10 (1), pp. 107. Date of Electronic Publication: 2024 Oct 23.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Autor: Poejo J; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal., Gomes AI; Centro de Investigação Em Ciência Psicológica (CICPSI), Faculdade de Psicologia, Universidade de Lisboa, Alameda da Universidade, 1649-013, Lisbon, Portugal., Granjo P; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal., Dos Reis Ferreira V; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, 2819-516, Caparica, Portugal. sindromecdg@gmail.com.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 04; Vol. 19 (1), pp. 98. Date of Electronic Publication: 2024 Mar 04.

A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases.

Autor: Falcão M; Institute of Hygiene and Tropical Medicine (IHMT), NOVA University Lisbon, 1349-008 Lisbon, Portugal.; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal., Allocca M; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Institute of Biomolecular Chemistry, National Research Council of Italy, 80078 Pozzuoli, Italy.; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania 'Luigi Vanvitelli', 81100 Caserta, Italy., Rodrigues AS; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal., Granjo P; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal., Francisco R; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal., Pascoal C; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal., Rossi MG; IFILNOVA-Institute of Philosophy-Faculty of Social Sciences and Humanities, NOVA University of Lisbon, 1069-061 Lisbon, Portugal., Marques-da-Silva D; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; ALiCE-Associate Laboratory in Chemical Engineering, Faculty of Engineering, University of Porto, Rua Dr. Roberto Frias, 4200-465 Porto, Portugal., Magrinho SCM; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.; LAQV (Associate Lab for Green Chemistry)-Chemistry Department, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal., Jaeken J; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Centre of Metabolic Diseases, Department of Pediatrics, KU Leuven, 3000 Leuven, Belgium., Castro LA; Swiss Personalized Health Network (SPHN), 3001 Bern, Switzerland.; EUPATI-European Patient's Academy on Therapeutic Innovation, 3008 Bern, Switzerland.; SNSF Swiss National Science Foundation, 3001 Bern, Switzerland., de Freitas C; Laboratório para a Investigação Integrativa e Translacional em Saúde Populacional (ITR), 4050-600 Porto, Portugal.; EPI Unit-Instituto de Saúde Pública, Universidade do Porto, 4050-600 Porto, Portugal.; Departamento de Ciências da Saúde Pública e Forenses e Educação Médica, Faculdade de Medicina, Universidade do Porto, 4200-319 Porto, Portugal., Videira PA; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal., de Andrés-Aguayo L; Center for Genomic Regulation (CRG), Barcelona Biomedical Research Park (PRBB), 08003 Barcelona, Spain., Dos Reis Ferreira V; CDG & Allies-Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Department of Life Sciences, School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, NOVA University of Lisbon, 2819-516 Caparica, Portugal.; Associate Laboratory i4HB-Institute for Health and Bioeconomy, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Department of Life Sciences, School of Science and Technology, NOVA University Lisbon, 2819-516 Caparica, Portugal.

Publikováno v: International journal of environmental research and public health [Int J Environ Res Public Health] 2023 Jan 05; Vol. 20 (2). Date of Electronic Publication: 2023 Jan 05.