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Year Number of Results
2011 1
2013 1
2015 1
2016 1
2017 2
2018 3
2019 2
2020 2
2021 2
2022 6
2023 5
2024 1

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Page 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: brasil s. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: brasil s. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
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: brasil s. 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.
CDG Therapies: From Bench to Bedside.
Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. Brasil S, et al. Int J Mol Sci. 2018 Apr 27;19(5):1304. doi: 10.3390/ijms19051304. Int J Mol Sci. 2018. PMID: 29702557 Free PMC article. Review.
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).
Brasil S, Allocca M, Magrinho SCM, Santos I, Raposo M, Francisco R, Pascoal C, Martins T, Videira PA, Pereira F, Andreotti G, Jaeken J, Kantautas KA, Perlstein EO, Ferreira VDR. Brasil S, et al. Int J Mol Sci. 2022 Aug 5;23(15):8725. doi: 10.3390/ijms23158725. Int J Mol Sci. 2022. PMID: 35955863 Free PMC article. Review.
Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.
Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Yuste-Checa P, et al. Among authors: brasil s. Hum Mutat. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27774737
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: brasil s. 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.
25 results