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Browsing by Author Wopereis, S.

Full Text	Issue Date	Title	Author(s)
	2007	A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.	Morava, E.; Zeevaert, R.; Korsch, E.; Huijben, K.M.; Wopereis, S., et al
	2007	Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.	Wopereis, S.; Grunewald, S.; Huijben, K.M.; Morava, E.; Mollicone, R., et al
	2006	O-glycosylation in health and disease	Wopereis, S.
	2006	CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans.	Albahri, Z.; Marklova, E.; Dedek, P.; Hojdikova, H.; Fiedler, Z., et al
	2006	Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.	Wopereis, S.; Hamid, U.M. Abd; Critchley, A.; Royle, L.; Dwek, R.A., et al
	2006	Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review.	Wopereis, S.; Lefeber, D.J.; Morava, E.; Wevers, R.A.
	2006	High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome.	Morava, E.; Willemsen, M.A.A.P.; Wopereis, S.; Laak, H.J. ter; Lefeber, D.J., et al
	2005	Defective protein glycosylation in patients with cutis laxa syndrome.	Morava, E.; Wopereis, S.; Coucke, P.J.; Gillessen-Kaesbach, G.; Voit, T., et al
	2005	Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.	Wopereis, S.; Morava, E.; Grunewald, S.; Adamowicz, M.; Huijben, K.M., et al
	2005	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.; Grunewald, S.; Mills, P.B.; Winchester, B.G., et al