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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
Inhibition of fucosylation in human invasive ductal carcinoma reduces E-selectin ligand expression, cell proliferation, and ERK1/2 and p38 MAPK activation.
Carrascal MA, Silva M, Ramalho JS, Pen C, Martins M, Pascoal C, Amaral C, Serrano I, Oliveira MJ, Sackstein R, Videira PA. Carrascal MA, et al. Among authors: pascoal c. Mol Oncol. 2018 May;12(5):579-593. doi: 10.1002/1878-0261.12163. Epub 2018 Mar 30. Mol Oncol. 2018. PMID: 29215790 Free PMC article.
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.
The challenge of CDG diagnosis.
Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. Francisco R, et al. Among authors: pascoal c. Mol Genet Metab. 2019 Jan;126(1):1-5. doi: 10.1016/j.ymgme.2018.11.003. Epub 2018 Nov 9. Mol Genet Metab. 2019. PMID: 30454869 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.
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.
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.
94 results