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Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis.
Butler M, Quelhas D, Critchley AJ, Carchon H, Hebestreit HF, Hibbert RG, Vilarinho L, Teles E, Matthijs G, Schollen E, Argibay P, Harvey DJ, Dwek RA, Jaeken J, Rudd PM. Butler M, et al. Among authors: quelhas d. Glycobiology. 2003 Sep;13(9):601-22. doi: 10.1093/glycob/cwg079. Epub 2003 May 28. Glycobiology. 2003. PMID: 12773475
Strenuous exercise aggravates MDMA-induced skeletal muscle damage in mice.
Duarte JA, Leão A, Magalhães J, Ascensão A, Bastos ML, Amado FL, Vilarinho L, Quelhas D, Appell HJ, Carvalho F. Duarte JA, et al. Among authors: quelhas d. Toxicology. 2005 Jan 31;206(3):349-58. doi: 10.1016/j.tox.2004.07.012. Toxicology. 2005. PMID: 15588925
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group; Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Kornak U, et al. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23. Nat Genet. 2008. PMID: 18157129
De Barsy syndrome and ATP6V0A2-CDG.
Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J. Leao-Teles E, et al. Among authors: quelhas d. Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. Eur J Hum Genet. 2010. PMID: 20010974 Free PMC article. No abstract available.
Congenital disorders of glycosylation with neonatal presentation.
Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proença E. Resende C, et al. Among authors: quelhas d. BMJ Case Rep. 2014 Apr 16;2014:bcr2013010037. doi: 10.1136/bcr-2013-010037. BMJ Case Rep. 2014. PMID: 24739649 Free PMC article.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Among authors: quelhas d. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
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