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Browsing by Author Poll-The, B.T.

Full Text	Issue Date	Title	Author(s)
	2012	Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders.	Voets, A.M.; Lindsey, P.J.; Vanherle, S.J.; Timmer, E.D.; Esseling, J.J., et al
	2012	Incidence of acquired demyelinating syndromes of the CNS in Dutch children: a nationwide study.	Ketelslegers, I.A.; Catsman-Berrevoets, C.E.; Neuteboom, R.F.; Boon, M.; Dijk, K.G., et al
	2010	Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.	Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T., et al
	2010	The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.	Bok, L.A.; Maurits, N.M.; Willemsen, M.A.A.P.; Jakobs, C.; Teune, L.K., et al
	2009	Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.	Houtkooper, R.H.; Rodenburg, R.J.T.; Thiels, C.; Lenthe, H. van; Stet, F., et al
	2008	Prognostic factors after a first attack of inflammatory CNS demyelination in children.	Neuteboom, R.F.; Boon, M.; Berrevoets, CE Catsman; Vles, J.S.H.; Gooskens, R.H., et al
	2008	tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.	Budde, B.S.; Namavar, Y.; Barth, P.G.; Poll-The, B.T.; Nurnberg, G., 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
	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
	1997	Phosphomannomutase deficiency is the main cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins	Jaeken, J.; Artigas, J.; Barone, R.; Fiumara, A.; Koning, T.J., et al
	1997	Abnormal glutathione conjugation in patients with tyrosinaemia type I	Mulders, T.M.T.; Bergman, D.J.W.; Poll-The, B.T.; Smit, G.P.A.; Breimer, D.D., et al
	1997	Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation : Clinical, biochemical and DNA analyses in a four-generation family	Ausems, M.G.E.M.; Bakker, E.; Berger, R.A.; Duran, M.; Diggelen, O.P. van, et al
	1996	Phenylketonuria in the Netherlands: 93% of the mutations are detected by single-strand conformation analysis.	Sijs-Bos, C.J.M. van der; Diepstraten, C.M.; Juyn, J.A.; Plaisier, M.; Giltay, J., et al
	1996	Mutation analysis of the pyruvate dehydrogenase E1-alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency	Lissens, W.; Meirleir, L. de; Seneca, S.; Benelli, C.; Marsac, C., et al
	1996	Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations.	Bergman, A.J.I.W.; Knaap, M.S. van der; Smeitink, J.A.M.; Duran, M.; Dorland, L., et al
	1996	Variant-vormen van fenylketonurie in Nederland.	Duran, M.; Klerk, J.B.C. de; Smeitink, J.A.M.; Poll-The, B.T.
	1996	Evaluation of the presence of premature atherosclerosis in adults with heterozygosity for cystathionine-beta-synthase deficiency.	Valk, H.W. de; Eeden, M.K.G. van; Banga, J.D.; Griend, R. van der; Groot, E. de, 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	Immunolocalization of a 43kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders	Espeel, M.; Roels, F.; Giros, M.; Mandel, H.; Peltier, A., et al
	1995	X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit	Berg, I.E.T. van den; Beurden, E.A.C.M. van; Malingré, H.E.M.; Ploos van Amstel, J.K.; Poll-The, B.T., et al