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442 results

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Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V. Pascoal C, et al. Among authors: jaeken j. Orphanet J Rare Dis. 2022 Oct 29;17(1):398. doi: 10.1186/s13023-022-02551-y. Orphanet J Rare Dis. 2022. PMID: 36309700 Free PMC article.
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.
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.
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.
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.
Treatment of congenital disorders of glycosylation: An overview.
Quelhas D, Jaeken J. Quelhas D, et al. Among authors: jaeken j. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108567. doi: 10.1016/j.ymgme.2024.108567. Epub 2024 Aug 18. Mol Genet Metab. 2024. PMID: 39236565 Free article. Review.
442 results