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Browsing by Author Wanders, R.J.A.

Full Text	Issue Date	Title	Author(s)
	2008	[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated]	Maldegem, BT van; Duran, M.; Wanders, R.J.A.; Niezen-Koning, K.E.; Hogeveen, M., et al
	2007	Phytanic acid impairs mitochondrial respiration through protonophoric action.	Komen, J.C.; Distelmaier, F.; Koopman, W.J.H.; Wanders, R.J.A.; Smeitink, J.A.M., et al
	2006	NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.	Engelke, U.F.H.; Kremer, H.P.H.; Kluijtmans, L.A.J.; Graaf, M. van der; Morava, E., et al
	2004	Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.	Poll-The, B.T.; Gootjes, J.; Duran, M.; Klerk, J.B.C. de; Wenniger-Prick, L.J., et al
	2004	Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.	Gootjes, J.; Schmohl, F.; Mooijer, P.A.; Dekker, C.; Mandel, H., et al
	2004	Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.	Barth, P.G.; Majoie, C.B.; Gootjes, J.; Wanders, R.J.A.; Waterham, H.R., et al
	1997	Het Smith Lemli Opitz syndroom: een stoornis in de cholesterol biosynthese	Jira, P.E.; Jong, J.G.N. de; Metz, M. de; Aalfs, C.M.; Hennekam, R.C.M., et al
	1997	Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient	Huizing, M.; Iacobazzi, V.; Ijlst, L.; Savelkoul, P.J.M.; Ruitenbeek, W., et al
	1997	New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency	Dionisi-Vici, C.; Ruitenbeek, W.; Fariello, G.; Bentlage, H.A.C.M.; Wanders, R.J.A., et al
	1997	Neonatal lethal mitochondrial trifunctional protein (MTP) deficiency mimicking a respiratory chain defect	Grunewald, S.; Bakkeren, J.A.J.; Wanders, R.J.A.; Wendel, U.A.H.
	1997	Het Smith-Lemli-Opitz syndroom: een stoornis in de cholesterol biosynthese	Jira, P.E.; Jong, J.G.N. de; Metz, M. de; Aalfs, C.M.; Hennekam, R.C.M., et al
	1997	Smith-Lemli-Opitz syndrome: Deficient Delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection	Wanders, R.J.A.; Romeijn, G.J.; Wijburg, F.A.; Hennekam, R.C.M.; Jong, J.G.N. de, et al
	1996	Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.	Bakker, H.; Bogert, C. van den; Drewes, J.G.; Barth, P.G.; Scholte, H.R., et al
	1996	Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group	Motley, A.M.; Tabak, H.F.; Smeitink, J.A.M.; Poll-The, B.T.; Barth, P.G., et al
	1995	Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy	Nijtmans, L.G.J.; Barth, P.G.; Lincke, C.R.; Galen, M.J.M. van; Zwart, R., et al