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Congenital disorders of glycosylation (CDG): Quo vadis?
Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Péanne R, et al. Among authors: thiel c. Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079546 Free article. Review.
Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
Kopp J, Jahn D, Vogt G, Psoma A, Ratto E, Morelle W, Stelzer N, Hausser I, Hoffmann A, de Los Santos MR, Koch LA, Fischer-Zirnsak B, Thiel C, Palm W, Meierhofer D, van den Bogaart G, Foulquier F, Meinhardt A, Kornak U. Kopp J, et al. Among authors: thiel c. Cell Mol Life Sci. 2024 Dec 16;82(1):4. doi: 10.1007/s00018-024-05506-7. Cell Mol Life Sci. 2024. PMID: 39680136 Free PMC article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: thiel c. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
Gücüm S, Sakson R, Hoffmann M, Grote V, Becker C, Pakari K, Beedgen L, Thiel C, Rapp E, Ruppert T, Thumberger T, Wittbrodt J. Gücüm S, et al. Among authors: thiel c. Development. 2021 Jun 1;148(11):dev199385. doi: 10.1242/dev.199385. Epub 2021 Jun 9. Development. 2021. PMID: 34106226 Free PMC article.
705 results