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Browsing by Author Jaeken, J.

Full Text	Issue Date	Title	Author(s)
	2005	Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.	Spaapen, L.J.; Bakker, J.A.; Meer, S.B. van der, et al
	2012	DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy	Barone, R.; Aiello, C.; Race, V., et al
	2010	Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.	Capelle, C.I. van; Beek, N.A. van der; Hagemans, M.L., et al
	2011	FSH isoform pattern in classic galactosemia	Gubbels, C.S.; Thomas, C.M.G.; Wodzig, W.K., et al
	2010	Genetic disorders of renal phosphate transport.	Levtchenko, E.N.; Schoeber, J.P.H.; Jaeken, J.
	2011	How to find and diagnose a CDG due to defective N-glycosylation	Lefeber, D.J.; Morava, E.; Jaeken, J.
	2011	Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression	Achouitar, S.; Mohamed, M.; Gardeitchik, T., et al
	1997	Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins	Jaeken, J.; Artigas, J.; Barone, R., et al