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Full TextIssue DateTitleAuthor(s)
2012Biochemical and clinical investigations for the diagnosis of congenital disorders of glycosylationGuillard, M.
2011B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal InvolvementGuillard, M.; Morava, E.; Ruijter, J. de; Roscioli, T.; Penzien, J.; Heuvel, L.P.W.J. van den; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Bodamer, O.A.; Wevers, R.A.; Lefeber, D.J.
2011Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternMohamed, 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.
2011Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type IGuillard, 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.
2011Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type IIGuillard, M.; Morava, E.; Delft, F.L. van; Hague, R.; Korner, C.; Adamowicz, M.; Wevers, R.A.; Lefeber, D.J.
2010De Barsy sydrome and ATP6V0A2-CDG Reply.Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A.
2010Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.M.Y.; Huizing, M.; Padberg, G.W.A.M.; Wevers, R.A.; Engelen, B.G.M. van; Lefeber, D.J.
2009Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.Morava, E.; Wosik, H.; Sykut-Cegielska, J.; Adamowicz, M.; Guillard, M.; Wevers, R.A.; Lefeber, D.J.; Cruysberg, J.R.M.
2009Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa.Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D.J.; Kornak, U.; Wevers, R.A.
2009Autosomal recessive cutis laxa syndrome revisited.Morava, E.; Guillard, M.; Lefeber, D.J.; Wevers, R.A.
2009Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry.Guillard, M.; Gloerich, J.; Wessels, H.J.; Morava, E.; Wevers, R.A.; Lefeber, D.J.
2009Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.Lefeber, D.J.; Schonberger, J.; Morava, E.; Guillard, M.; Huyben, C.M.L.C.; Verrijp, K.; Grafakou, O.; Evangeliou, A.; Preijers, F.W.M.B.; Manta, P.; Yildiz, J.; Grunewald, S.; Spilioti, M.; Elzen, C. van den; Klein, D.; Hess, D.; Ashida, H.; Hofsteenge, J.; Maeda, Y.; Heuvel, L.P.W.J. van den; Lammens, M.M.Y.; Lehle, L.; Wevers, R.A.
2008Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M.; Sykut-Cegielska, J.; Hadzsiev, K.; Wevers, R.A.; Lefeber, D.J.
2008Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.Truin, G.; Guillard, M.; Lefeber, D.J.; Sykut-Cegielska, J.; Adamowicz, M.; Hoppenreijs, E.; Sengers, R.C.A.; Wevers, R.A.; Morava, E.

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