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389 results

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Page 1
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Lefeber DJ, et al. Among authors: grunewald s. Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576565 Free PMC article.
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T. Imbach T, et al. Among authors: grunewald s. Hum Genet. 2000 May;106(5):538-45. doi: 10.1007/s004390000293. Hum Genet. 2000. PMID: 10914684
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
Van Hove JL, Van Damme-Lombaerts R, Grünewald S, Peters H, Van Damme B, Fryns JP, Arnout J, Wevers R, Baumgartner ER, Fowler B. Van Hove JL, et al. Among authors: grunewald s. Am J Med Genet. 2002 Aug 1;111(2):195-201. doi: 10.1002/ajmg.10499. Am J Med Genet. 2002. PMID: 12210350
Defective protein glycosylation in patients with cutis laxa syndrome.
Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Morava E, et al. Among authors: grunewald s. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Wopereis S, Morava E, Grünewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. Wopereis S, et al. Among authors: grunewald s. Biochim Biophys Acta. 2005 Jun 30;1741(1-2):156-64. doi: 10.1016/j.bbadis.2004.11.009. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15955459 Free article.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: grunewald s. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
389 results