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Page 1
Congenital disorders of glycosylation (CDG): state of the art in 2022.
Francisco R, Brasil S, Poejo J, Jaeken J, Pascoal C, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: dos reis ferreira v. Orphanet J Rare Dis. 2023 Oct 19;18(1):329. doi: 10.1186/s13023-023-02879-z. Orphanet J Rare Dis. 2023. PMID: 37858231 Free PMC article. Review.
A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases.
Falcão M, Allocca M, Rodrigues AS, Granjo P, Francisco R, Pascoal C, Rossi MG, Marques-da-Silva D, Magrinho SCM, Jaeken J, Castro LA, de Freitas C, Videira PA, de Andrés-Aguayo L, Dos Reis Ferreira V. Falcão M, et al. Among authors: dos reis ferreira v. Int J Environ Res Public Health. 2023 Jan 5;20(2):968. doi: 10.3390/ijerph20020968. Int J Environ Res Public Health. 2023. PMID: 36673723 Free PMC article. Review.
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V. Pascoal C, et al. Among authors: dos reis ferreira v. Orphanet J Rare Dis. 2022 Oct 29;17(1):398. doi: 10.1186/s13023-022-02551-y. Orphanet J Rare Dis. 2022. PMID: 36309700 Free PMC article.
A Participatory Framework for Plain Language Clinical Management Guideline Development.
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: dos reis ferreira v. Int J Environ Res Public Health. 2022 Oct 19;19(20):13506. doi: 10.3390/ijerph192013506. Int J Environ Res Public Health. 2022. PMID: 36294089 Free PMC article.
The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).
Francisco R, Brasil S, Pascoal C, Jaeken J, Liddle M, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: dos reis ferreira v. Orphanet J Rare Dis. 2022 Mar 24;17(1):134. doi: 10.1186/s13023-022-02286-w. Orphanet J Rare Dis. 2022. PMID: 35331276 Free PMC article.
Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.
Brasil S, Neves CJ, Rijoff T, Falcão M, Valadão G, Videira PA, Dos Reis Ferreira V. Brasil S, et al. Among authors: dos reis ferreira v. Front Mol Biosci. 2021 May 5;8:648012. doi: 10.3389/fmolb.2021.648012. eCollection 2021. Front Mol Biosci. 2021. PMID: 34026829 Free PMC article. Review.
20 results