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Page 1
RFT1 deficiency in three novel CDG patients.
Vleugels W, Haeuptle MA, Ng BG, Michalski JC, Battini R, Dionisi-Vici C, Ludman MD, Jaeken J, Foulquier F, Freeze HH, Matthijs G, Hennet T. Vleugels W, et al. Among authors: jaeken j. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
From glycosylation to glycosylation diseases.
Jaeken J, Matthijs G. Jaeken J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):823. doi: 10.1016/j.bbadis.2009.08.003. Biochim Biophys Acta. 2009. PMID: 19765533 Free article. No abstract available.
CDG nomenclature: time for a change!
Jaeken J, Hennet T, Matthijs G, Freeze HH. Jaeken J, et al. Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005. Biochim Biophys Acta. 2009. PMID: 19765534 Free PMC article. No abstract available.
CDG or not CDG.
Freeze HH, Jaeken J, Matthijs G. Freeze HH, et al. Among authors: jaeken j. J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1. J Inherit Metab Dis. 2022. PMID: 35338706 Free PMC article. No abstract available.
Congenital disorders of glycosylation.
Jaeken J, Matthijs G. Jaeken J, et al. Annu Rev Genomics Hum Genet. 2001;2:129-51. doi: 10.1146/annurev.genom.2.1.129. Annu Rev Genomics Hum Genet. 2001. PMID: 11701646 Review.
442 results