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Year Number of Results
2018 3
2019 4
2020 3
2021 1
2022 6
2023 3
2024 0

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18 results

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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: pascoal c. 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: pascoal c. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
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. Among authors: pascoal c. 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.
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: pascoal c. 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 and immune response: From bedside to bench and back.
Pascoal C, Francisco R, Ferro T, Dos Reis Ferreira V, Jaeken J, Videira PA. Pascoal C, et al. J Inherit Metab Dis. 2020 Jan;43(1):90-124. doi: 10.1002/jimd.12126. Epub 2019 Jun 25. J Inherit Metab Dis. 2020. PMID: 31095764 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. Among authors: pascoal c. 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.
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?
Brasil S, Pascoal C, Francisco R, Dos Reis Ferreira V, Videira PA, Valadão AG. Brasil S, et al. Among authors: pascoal c. Genes (Basel). 2019 Nov 27;10(12):978. doi: 10.3390/genes10120978. Genes (Basel). 2019. PMID: 31783696 Free PMC article. Review.
Patient-reported outcomes and quality of life in PMM2-CDG.
Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E. Ligezka AN, et al. Among authors: pascoal c. Mol Genet Metab. 2022 Jun;136(2):145-151. doi: 10.1016/j.ymgme.2022.04.002. Epub 2022 Apr 20. Mol Genet Metab. 2022. PMID: 35491370
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: pascoal c. 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.
18 results