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Browsing by Author Sykut-Cegielska, J.

Full Text	Issue Date	Title	Author(s)
	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., 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
	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
	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