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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: haeuptle ma. Hum Mutat. 2009 Oct;30(10):1428-34. doi: 10.1002/humu.21085. Hum Mutat. 2009. PMID: 19701946 Free PMC article.
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle MA, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C. Jaeken J, et al. Among authors: haeuptle ma. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S335-8. doi: 10.1007/s10545-009-1297-3. Epub 2009 Oct 24. J Inherit Metab Dis. 2009. PMID: 19856127
Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T. Haeuptle MA, et al. Am J Hum Genet. 2008 Mar;82(3):600-6. doi: 10.1016/j.ajhg.2007.12.021. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313027 Free PMC article.
A new case of ALG8 deficiency (CDG Ih).
Vesela K, Honzik T, Hansikova H, Haeuptle MA, Semberova J, Stranak Z, Hennet T, Zeman J. Vesela K, et al. Among authors: haeuptle ma. J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18. J Inherit Metab Dis. 2009. PMID: 19688606 Free article. Review.
The development and characterization of an E. coli O25B bioconjugate vaccine.
Kowarik M, Wetter M, Haeuptle MA, Braun M, Steffen M, Kemmler S, Ravenscroft N, De Benedetto G, Zuppiger M, Sirena D, Cescutti P, Wacker M. Kowarik M, et al. Among authors: haeuptle ma. Glycoconj J. 2021 Aug;38(4):421-435. doi: 10.1007/s10719-021-09985-9. Epub 2021 Mar 17. Glycoconj J. 2021. PMID: 33730261 Free PMC article.
13 results