DSpace at RU >

Browsing by Author Adamowicz, M.

Full Text	Issue Date	Title	Author(s)
	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., et al
	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., et al
	2010	SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.	Cantagrel, V.; Lefeber, D.J.; Ng, B.G.; Guan, Z.; Silhavy, J.L., et al
	2010	A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.	Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L., et al
	2009	Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.	Morava, E.; Wosik, H.; Sykut-Cegielska, J.; Adamowicz, M.; Guillard, M., et al
	2009	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.	Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B., et al
	2009	CDG type a and congenital cytomegalovirus infection: two coexisting conditions.	Jamroz, E.; Adamek, D.; Paprocka, J.; Adamowicz, M.; Marszal, E., et al
	2008	Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.	Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M., et al
	2008	Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.	Morava, E.; Lefeber, D.J.; Urban, Z.; Meirleir, L. de; Meinecke, P., et al
	2008	Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.	Truin, G.; Guillard, M.; Lefeber, D.J.; Sykut-Cegielska, J.; Adamowicz, M., et al
	2007	Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.	Schollen, E.; Keldermans, L.; Foulquier, F.; Briones, P.; Chabas, A., et al
	2007	Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls.	Adamowicz, M.; Ploski, R.; Rokicki, D.; Morava, E.; Gizewska, M., 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