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Page 1
The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.
Fountoulakis N, Lioudaki E, Lygerou D, Dermitzaki EK, Papakitsou I, Kounali V, Holleboom AG, Stratigis S, Belogianni C, Syngelaki P, Stratakis S, Evangeliou A, Gakiopoulou H, Kuivenhoven JA, Wevers R, Dafnis E, Stylianou K. Fountoulakis N, et al. Among authors: wevers r. Am J Kidney Dis. 2019 Oct;74(4):510-522. doi: 10.1053/j.ajkd.2019.03.422. Epub 2019 May 15. Am J Kidney Dis. 2019. PMID: 31103331
Cardiac manifestations of inborn errors of metabolism.
Evangeliou A, Papadopoulou-Legbelou K, Daphnis E, Ganotakis E, Vavouranakis I, Michailidou H, Hitoglou-Makedou A, Nicolaidou P, Wevers R, Varlamis G. Evangeliou A, et al. Among authors: wevers r. Minerva Pediatr. 2007 Jun;59(3):215-8. Minerva Pediatr. 2007. PMID: 17519866
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.
Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, Herman DS, Stroes ES, Aerts JM, Kastelein JJ, Motazacker MM, Dallinga-Thie GM, Levels JH, Zwinderman AH, Seidman JG, Seidman CE, Ljunggren S, Lefeber DJ, Morava E, Wevers RA, Fritz TA, Tabak LA, Lindahl M, Hovingh GK, Kuivenhoven JA. Holleboom AG, et al. Cell Metab. 2011 Dec 7;14(6):811-8. doi: 10.1016/j.cmet.2011.11.005. Cell Metab. 2011. PMID: 22152306 Free PMC article.
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Spilioti M, et al. Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24399946 Free PMC article.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. Jansen JC, et al. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833330 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. 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.
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.
van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG. van den Boogert MAW, et al. Circulation. 2019 Jul 23;140(4):280-292. doi: 10.1161/CIRCULATIONAHA.118.036484. Epub 2019 May 23. Circulation. 2019. PMID: 31117816
Selective screening for inborn errors of metabolism: the primary care-based model in rural Crete.
Evangeliou A, Lionis C, Michailidou H, Spilioti M, Kanitsakis A, Nikitakis P, Drakonakis N, Giannakopoulou C, Sbyrakis S, Sewell AC, Boehles HJ, Smeitink J, Wevers RA. Evangeliou A, et al. Among authors: wevers ra. J Inherit Metab Dis. 2001 Dec;24(8):877-80. doi: 10.1023/a:1013904627537. J Inherit Metab Dis. 2001. PMID: 11916324 No abstract available.
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. 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.
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: wevers ra. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
531 results