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442 results

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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.
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.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: jaeken j. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
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.
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.
442 results