DSpace at RU >

Search Results

Results 11-20 of 110.

Item hits:

Full Text	Issue Date	Title	Author(s)
	2011	Congenital disorders of glycosylation: sweet news	Theodore, M.; Morava, E.
	2011	Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man.	Holleboom, A.G.; Karlsson, H.; Lin, R.S.; Beres, T.M.; Sierts, J.A.; Herman, D.S.; Stroes, E.S.; Aerts, J.M.F.G.; Kastelein, J.J.; Motazacker, M.M.; Dallinga-Thie, G.M.; Levels, J.H.; Zwinderman, A.H.; Seidman, J.G.; Seidman, C.E.; Ljunggren, S.; Lefeber, D.J.; Morava, E.; Wevers, R.A.; Fritz, T.A.; Tabak, L.A.; Lindahl, M.; Hovingh, G.K.; Kuivenhoven, J.A.
	2011	Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency	Achouitar, S.; Goldstein, J.L.; Mohamed, M.; Austin, S.; Boyette, K.; Blanpain, F.M.; Rehder, C.W.; Kishnani, P.S.; Wortmann, S.B.; Heijer, M. den; Lefeber, D.J.; Wevers, R.A.; Bali, D.S.; Morava, E.
	2011	Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I	Broek, L. van den; Backx, A.P.C.M.; Coolen, H.; Wijburg, F.A.; Wevers, R.A.; Morava, E.; Neeleman, C.
	2011	Early detection of myocardial dysfunction in children with mitochondrial disease: An ultrasound and two-dimensional strain echocardiography study	Marcus, K.A.; Barends, M.; Morava, E.; Feuth, T.; Korte, C.L. de; Kapusta, L.
	2011	Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.	Lefeber, D.J.; Brouwer, A.P.M. de; Morava, E.; Riemersma, M.; Schuurs-Hoeijmakers, J.H.M.; Absmanner, B.; Verrijp, K.; Akker, W.M.R. van den; Huijben, K.; Steenbergen, G.C.; Reeuwijk, J. van; Jozwiak, A.; Zucker, N.; Lorber, A.; Lammens, M.M.Y.; Knopf, C.; Bokhoven, H. van; Grunewald, S.; Lehle, L.; Kapusta, L.; Mandel, H.; Wevers, R.A.
	2011	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; Baulny, H.O. de; Ounap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grunewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.G.J.; Elson, J.; Morava, E.
	2011	Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern	Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E.; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; Spronsen, F.J. van; Niezen-Koning, K.E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B.C.; Zeevaert, R.; Wevers, R.A.; Lefeber, D.J.; Morava, E.
	2011	Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I	Guillard, M.; Wada, Y.; Hansikova, H.; Yuasa, I.; Vesela, K.; Ondruskova, N.; Kadoya, M.; Janssen, A.; Heuvel, L.P.W.J. van den; Morava, E.; Zeman, J.; Wevers, R.A.; Lefeber, D.J.
	2011	Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II	Guillard, M.; Morava, E.; Delft, F.L. van; Hague, R.; Korner, C.; Adamowicz, M.; Wevers, R.A.; Lefeber, D.J.

previous 1 2 3 4 5 6 7 8 9 10 11 next