Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Vanessa Dos Reis, Ferreira"'
Autor:
Pedro Granjo, Carlota Pascoal, Diana Gallego, Rita Francisco, Jaak Jaeken, Tristen Moors, Andrew C. Edmondson, Kristin A. Kantautas, Mercedes Serrano, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood. Therefore, this study aims to elucidat
Externí odkaz:
https://doaj.org/article/3cdd2f60fd6f4e29b8ff4316b5846dbb
Autor:
Rita Francisco, Carlota Pascoal, Pedro Granjo, Claudia de Freitas, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Research Involvement and Engagement, Vol 10, Iss 1, Pp 1-13 (2024)
Abstract Background Patient and public co-creation and involvement in health initiatives have been witnessing great expansion in recent years. From healthcare to research settings, collaborative approaches are becoming increasingly prevalent and dive
Externí odkaz:
https://doaj.org/article/249f803ac55b476f8a01c60c4e62ce68
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the resilience levels of
Externí odkaz:
https://doaj.org/article/5e8a1a3aa442403aa3b5441d8a7d70de
Autor:
Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-
Externí odkaz:
https://doaj.org/article/091909c18fba460ea7072edca855db6c
Autor:
Carlota Pascoal, Rita Francisco, Patrícia Mexia, Beatriz Luís Pereira, Pedro Granjo, Helena Coelho, Mariana Barbosa, Vanessa dos Reis Ferreira, Paula Alexandra Videira
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response. Alterations in glycosylation can modulate the course of various pathologies, such as the case of conge
Externí odkaz:
https://doaj.org/article/a518ea8f11db408eabd8b410a658803c
Autor:
Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)
Abstract Background Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the continuous efforts of the C
Externí odkaz:
https://doaj.org/article/1a0260e2920f40c4a53b43d60ba5fd49
Autor:
Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)
Abstract Background Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-based platforms offer
Externí odkaz:
https://doaj.org/article/39f220057f1b4473a57de27ecccfae2a
Autor:
Sandra Brasil, Cátia José Neves, Tatiana Rijoff, Marta Falcão, Gonçalo Valadão, Paula A. Videira, Vanessa dos Reis Ferreira
Publikováno v:
Frontiers in Molecular Biosciences, Vol 8 (2021)
More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs. However, m
Externí odkaz:
https://doaj.org/article/d1e18d058fd94c43921098ee9f8e100c
Autor:
Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros, Vanessa dos Reis Ferreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Abstract Background Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the reco
Externí odkaz:
https://doaj.org/article/b594ac784cf54879b11d396db971cbce
Autor:
Anna N, Ligezka, Anab, Mohamed, Carlota, Pascoal, Vanessa Dos Reis, Ferreira, Suzanne, Boyer, Christina, Lam, Andrew, Edmondson, Wirginia, Krzysciak, Raphael, Golebiowski, Judit, Perez-Ortiz, Eva, Morava
Publikováno v:
Molecular Genetics and Metabolism. 136:145-151
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ef3d224622d26403553b6f2e66a430
https://doi.org/10.1016/j.ymgme.2022.04.002
https://doi.org/10.1016/j.ymgme.2022.04.002