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Browsing by Author Wortmann, S.B.

Full Text	Issue Date	Title	Author(s)
	2013	The 3-methylglutaconic acidurias revisited	Wortmann, S.B.
	2012	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.	Wortmann, S.B.; Vaz, F.M.; Gardeitchik, T.; Vissers, L.E.L.M.; Renkema, G.H., et al
	2012	The 3-methylglutaconic acidurias: what's new?	Wortmann, S.B.; Kluijtmans, L.A.J.; Engelke, U.F.H.; Wevers, R.A.; Morava, E.
	2012	Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini.	Binkhorst, M.; Wortmann, S.B.; Funke, S.; Kozicz, T.L.; Wevers, R.A., et al
	2012	Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?	Wortmann, S.B.; Champion, M.P.; Heuvel, L.P. van den; Barth, H.; Trutnau, B., et al
	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
	2011	3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype	Wortmann, S.B.; Morava, E.
	2011	Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency	Achouitar, S.; Goldstein, J.L.; Mohamed, M.; Austin, S.; Boyette, K., et al
	2011	Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway	Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K., et al
	2011	Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy	Smits, P.; Saada, A.; Wortmann, S.B.; Heister, A.; Brink, M., et al
	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
	2010	MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.	Albrecht, B.; Brouwer, A.P.M. de; Lefeber, D.J.; Cremer, K.; Hausser, I., et al
	2010	3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.	Wortmann, S.B.; Kremer, H.P.H.; Graham, A.; Willemsen, M.H.; Loupatty, F.J., et al
	2009	Mitochondrial energy production correlates with the age-related BMI.	Wortmann, S.B.; Zweers-van Essen, H.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Vries, M.C. de, et al
	2009	Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.	Wortmann, S.B.; Rodenburg, R.J.T.; Jonckheere, A.I.; Vries, M.C. de; Huizing, M., et al
	2008	Prenatal diagnosis of cerebral lesions in Tuberous sclerosis complex (TSC). Case report and review of the literature.	Wortmann, S.B.; Reimer, A.G.; Creemers, J.W.; Mullaart, R.A.
	2007	Early cardiac involvement in children carrying the A3243G mtDNA mutation.	Wortmann, S.B.; Rodenburg, R.J.T.; Backx, A.P.C.M.; Schmitt, E.; Smeitink, J.A.M., et al
	2007	Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.	Wortmann, S.B.; Rodenburg, R.J.T.; Schwahn, B.; Smeitink, J.A.M.; Morava, E.
	2006	Refractory severe intestinal vasculitis due to Henoch-Schonlein purpura: successful treatment with plasmapheresis.	Wortmann, S.B.; Fiselier, T.J.W.; Kar, N.C.A.J. van de; Aarts, R.A.H.M.; Warris, A., et al
	2005	Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency.	Morava, E.; Wortmann, S.B.; Essen, H.Z. van; Liebrand van Sambeek, R.; Wevers, R.A., et al