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

Year Number of Results
2002 3
2003 7
2004 3
2005 3
2006 5
2007 7
2008 9
2009 11
2010 8
2011 8
2012 10
2013 10
2014 8
2015 11
2016 18
2017 15
2018 12
2019 12
2020 13
2021 15
2022 14
2023 5
2024 2

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172 results

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Page 1
Natural history of three late-diagnosed classic Galactosemia patients.
Quelhas D, Kingma SDK, Jonckheere AI, Smeets-Peels CS, Gomes DC, Duro J, Oliveira A, Matthijs G, Steinbusch LKM, Jaeken J, Rivera I, Rubio-Gozalbo E. Quelhas D, et al. Among authors: jaeken j. Mol Genet Metab Rep. 2024 Jan 23;38:101057. doi: 10.1016/j.ymgmr.2024.101057. eCollection 2024 Mar. Mol Genet Metab Rep. 2024. PMID: 38469096 Free PMC article.
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: jaeken j. 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: jaeken j. 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.
SRD5A3-CDG: A Patient with a Novel Variant and Brain Neoplasm.
Kasapkara CS, Olgac A, Derinkuyu BE, Oztoprak U, Jaeken J. Kasapkara CS, et al. Among authors: jaeken j. J Coll Physicians Surg Pak. 2022 Dec;32(12):SS221-SS226. doi: 10.29271/jcpsp.2022.Supp0.SS221. J Coll Physicians Surg Pak. 2022. PMID: 36597345 Review.
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: jaeken j. 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.
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: jaeken j. 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.
172 results