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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 2
2012 2
2014 1
2015 1
2016 1
2017 2
2018 7
2019 3
2020 5
2021 3
2022 5
2023 3
2024 2

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32 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: marques da silva d. 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.
Recognizable phenotypes in CDG.
Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Ferreira CR, et al. Among authors: marques da silva d. J Inherit Metab Dis. 2018 May;41(3):541-553. doi: 10.1007/s10545-018-0156-5. Epub 2018 Apr 13. J Inherit Metab Dis. 2018. PMID: 29654385 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: marques da silva d. 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 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: marques da silva d. 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.
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: marques da silva d. 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.
32 results