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Full Text	Issue Date	Title	Author(s)
	2007	Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts.	Janssen, A.J.M.; Trijbels, J.M.F.; Sengers, R.C.A.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den; Wintjes, L.T.; Stoltenborg-Hogenkamp, B.; Rodenburg, R.J.T.
	2006	The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.	Coenen, M.J.H.; Smeitink, J.A.M.; Farhoud, M.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Janssen, A.; Kaauwen, P.M. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den
	2006	Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.	Janssen, A.J.M.; Trijbels, J.M.F.; Sengers, R.C.A.; Wintjes, L.T.; Ruitenbeek, W.; Smeitink, J.A.M.; Morava, E.; Engelen, B.G.M. van; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.
	2006	Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.	Coenen, M.J.H.; Smeitink, J.A.M.; Pots, J.M.; Kaauwen, E. van; Trijbels, J.M.F.; Hol, F.A.; Heuvel, L.P.W.J. van den
	2006	Monitoring of inosine monophosphate dehydrogenase activity in mononuclear cells of children with acute lymphoblastic leukemia: enzymological and clinical aspects.	Brouwer, C.; Vermunt-de Koning, D.G.M.; Trueworthy, R.C.; Riet, P.G.J.H. ter; Duley, J.A.; Trijbels, J.M.F.; Hoogerbrugge, P.M.; Bokkerink, J.P.M.; Wering, E.R. van; Abreu, R.A. de
	2005	Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.	Straaten, H.L.M. van; Tintelen, J.P. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den; Troost, D.; Rozemuller, J.M.; Duran, M.; Vries, L.S. de; Schuelke, M.; Barth, P.G.
	2005	Thiopurine methyltransferase in acute lymphoblastic leukaemia: biochemical and molecular biological aspects.	Brouwer, C.; Abreu, R.A. de; Keizer-Garritsen, J.J.; Lambooy, L.H.J.; Ament, K.; Riet, P.G.J.H. ter; Wering, E.R. van; Trijbels, J.M.F.; Veerman, A.J.P.; Hoogerbrugge, P.M.; Bökkerink, J.P.M.
	2005	Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system.	Coenen, M.J.H.; Smeitink, J.A.M.; Smeets, R.; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den
	2005	Role of 5'-nucleotidase in thiopurine metabolism: enzyme kinetic profile and association with thio-GMP levels in patients with acute lymphoblastic leukemia during 6-mercaptopurine treatment.	Brouwer, C.; Vogels-Mentink, T.M.; Keizer-Garritsen, J.J.; Trijbels, J.M.F.; Bökkerink, J.P.M.; Hoogerbrugge, P.M.; Wering, E.R. van; Veerman, A.J.P.; Abreu, R.A. de
	2004	Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.	Coenen, M.J.H.; Heuvel, L.P.W.J. van den; Ugalde, C.; Brinke, M. ten; Nijtmans, L.G.J.; Trijbels, J.M.F.; Beblo, S.; Maier, E.M.; Muntau, A.C.; Smeitink, J.A.M.
	2004	Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.	Morava, E.; Sengers, R.C.A.; Laak, H.J. ter; Heuvel, L.P.W.J. van den; Janssen, A.; Trijbels, J.M.F.; Cruysberg, H.; Boelen, C.; Smeitink, J.A.M.
	2002	Het metabolisme volop in beweging	Trijbels, J.M.F.
	1997	A common 844INS68 insertion variant in the cystathionine ß-synthase gene	Kluijtmans, L.A.J.; Boers, G.H.J.; Trijbels, J.M.F.; Zanders, H.M.A.; Heuvel, L.P.W.J. van den; Blom, H.J.
	1997	Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex	Trijbels, J.M.F.; Ruitenbeek, W.; Huizing, M.; Wendel, U.A.H.; Smeitink, J.A.M.; Sengers, R.C.A.
	1997	Nieuwe ontwikkelingen in de automatisering van moleculaire diagnostiek: mutatie-analyse	Giesendorf, B.A.J.; Blom, H.J.; Trijbels, J.M.F.
	1997	Clinical heterogenity in respiratory chain complex III deficiency in childhood	Mourmans, J.; Wendel, U.A.H.; Bentlage, H.A.C.M.; Trijbels, J.M.F.; Smeitink, J.A.M.; Coo, I.F.M. de; Gabreëls, F.J.M.; Sengers, R.C.A.; Ruitenbeek, W.
	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.; Heuvel, L.P.W.J. van den; Indiveri, C.; Smeitink, J.A.M.; Trijbels, J.M.F.; Wanders, R.J.A.; Palmieri, F.
	1997	Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease	Put, N.M.J. van der; Molen, E.F. van der; Kluijtmans, L.A.J.; Heil, S.G.; Trijbels, J.M.F.; Eskes, T.K.A.B.; Oppenraaij-Emmerzaal, D. van; Bannerjee, R.; Blom, H.J.
	1997	Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis	Stöckler-Ipsiroglu, S.; Marescau, B.; Deyn, P.P. de; Trijbels, J.M.F.; Hanefeld, F.
	1997	Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV	Rubio Gozalbo, M.E.; Ruitenbeek, W.; Bentlage, H.A.C.M.; Schägger, H.; Sengers, R.C.A.; Trijbels, J.M.F.; Laak, H.J. ter; Mariman, E.C.M.; Bakker, M.M.; Jager, J.P. de; Smeitink, J.A.M.
	1997	Rapid and reliable measurement of highly elevated blood ammonia concentrations in children	Keijzer, M.H. de; Jakobs, B.S.; Brandts, R.W.; Hofs, M.T.W.; Trijbels, J.M.F.; Smeitink, J.A.M.
	1996	Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism	Ruitenbeek, W.; Wendel, U.A.H.; Hamel, B.C.J.; Trijbels, J.M.F.
	1996	Importance of mitochondrial transmembrane processes in human mitochondriopathies.	Huizing, M.; Pinto, V. de; Ruitenbeek, W.; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.
	1996	Detection and identificaton of 6-methylmercapto-8-hydroxypurine, a major metabolite of 6-mercaptopurine, in plasma during intravenous administration	Keuzenkamp-Jansen, C.W.; Baal, J. van; Abreu, R.A. de; Jong, J.G.N. de; Zuiderent, R.; Trijbels, J.M.F.
	1996	Effects on transmethylation by high-dose 6-mercaptopurine and methotrexate infusions during consolidation treatment of acute lymphoblastic leukemia.	Keuzenkamp-Jansen, C.W.; Abreu, R.A. de; Blom, H.J.; Bökkerink, J.P.M.; Trijbels, J.M.F.
	1996	Delay in diagnosis of homocystinuria: retrospective study of consecutive patients	Cruysberg, J.R.M.; Boers, G.H.J.; Trijbels, J.M.F.; Deutman, A.F.
	1996	Thiopurine methyltransferase: a review and a clinical pilot study.	Keuzenkamp-Jansen, C.W.; Leegwater, P.A.J.; Abreu, R.A. de; Lambooy, M.A.H.; Bökkerink, J.P.M.; Trijbels, J.M.F.
	1996	Benign mitochondrial encephalomyopathy in a patient with complex I deficiency.	Trijbels, J.M.F.; Ruitenbeek, W.; Sengers, R.C.A.; Janssen, A.J.M.; Oost, B.A. van
	1996	Metabolism of intravenously administered high-dose 6-mercaptopurine with and without allopurinol treatment in patients with non-Hodgkin lymphoma.	Keuzenkamp-Jansen, C.W.; Abreu, R.A. de; Bökkerink, J.P.M.; Lambooy, M.A.H.; Trijbels, J.M.F.
	1996	Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle	Bentlage, H.A.C.M.; Wendel, U.; Schägger, H.; Laak, H.J. ter; Janssen, A.J.M.; Trijbels, J.M.F.
	1996	Decreased methylene tetrahydrofolate reductase activity due to the 677C->T mutation in families with spina bifida offspring.	Heuvel, L.P.W.J. van den; Steegers-Theunissen, R.P.M.; Trijbels, J.M.F.; Eskes, T.K.A.B.; Mariman, E.C.M.; Heijer, M. den; Blom, H.J.
	1996	A common mutation in the 5,10-methylene tetra hydrofolate reductase as a risk factor for spina bifida	Put, N.M.J. van der; Frosst, P.; Steegers-Theunissen, R.P.M.; Eskes, T.K.A.B.; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den; Mariman, E.C.M.; Heijer, M. den; Rozen, R.; Blom, H.J.
	1996	Molecular genetic analysis in mild hyperhomocysteinemia : a common mutation in the methylene-tetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease	Kluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B.; Oost, B.A. van; Heijer, M. den; Trijbels, J.M.F.; Rozen, R.; Blom, H.J.
	1996	Molecular genetic analysis in mild hyperhomocysteinemia : a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease	Kluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B.; Oost, B.A. van; Heijer, M. den; Trijbels, J.M.F.; Rozen, R.; Blom, H.J.
	1996	Molecular genetics analysis in mild hyperhomocysteinemia : a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease	Kluijtmans, L.A.J.; Heuvel, L.P.W.J. van den; Boers, G.H.J.; Frosst, P.; Stevens, E.M.B.; Oost, B.A. van; Heijer, M. den; Trijbels, J.M.F.; Rozen, R.; Blom, H.J.
	1996	Thiamine (vitamin B1) supplementation does not reduce fasting blood homocysteine concentration in most homozygotes for homocystinuria.	Franssen-Franken, D.G.; Blom, H.J.; Boers, G.H.J.; Tangerman, A.; Thomas, C.M.G.; Trijbels, J.M.F.
	1996	Role of intraduodenal proteases in plasma cholecystokinin and pancreaticobiliary responses to protein and amino acids.	Thimister, P.W.L.; Hopman, W.P.M.; Sloots, C.E.J.; Rosenbusch, G.J.E.; Willems, J.L.; Trijbels, J.M.F.; Jansen, J.B.M.J.
	1995	Hyperhomocysteïnemie	Blom, H.J.; Boers, G.H.J.; Eskes, T.K.A.B.; Trijbels, J.M.F.
	1995	High-dose 6-mercaptopurine infusions and tumor lysis syndrome	Keuzenkamp-Jansen, C.W.; Bökkerink, J.P.M.; Abreu, R.A. de; Trijbels, J.M.F.
	1995	Two novel missense mutations in the cysthathionine beta-synthese gene in homocystinuric patients.	Kluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den
	1995	Thermolabile 5,10-methylene-tetrahydrofolate reductase as a cause of mild hyperhomocysteinemia	Engbersen, A.M.T.; Franssen-Franken, D.G.; Boers, G.H.J.; Stevens, E.M.B.; Trijbels, J.M.F.; Blom, H.J.
	1995	Determination of extracellular and intracellular thiopurines and methylthiopurines by high-performance liquid chromatography	Keuzenkamp-Jansen, C.W.; Abreu, R.A. de; Bökkerink, J.P.M.; Trijbels, J.M.F.
	1995	Two novel missense mutations in the cystathionine -beta-synthase gene in homocystinuric patients	Kluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den
	1995	Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia	Engbersen, A.M.T.; Franssen-Franken, D.G.; Boers, G.H.J.; Stevens, E.M.B.; Trijbels, J.M.F.; Blom, H.J.
	1995	Two novel missense mutations in the cysthathionine ß-synthase gene in homocystinuric patients	Kluijtmans, L.A.J.; Blom, H.J.; Boers, G.H.J.; Oost, B.A. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den
	1995	Reversal of methylmercaptopurine ribonucleoside cytotoxicity by purine ribonucleosides and adenine	Stet, E.H.; Abreu, R.A. de; Bökkerink, J.P.M.; Lambooy, L.H.J.; Vogels-Mentink, G.M.; Keizer-Garritsen, J.J.; Trijbels, J.M.F.
	1995	Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain	Wendel, U.A.H.; Ruitenbeek, W.; Bentlage, H.A.C.M.; Sengers, R.C.A.; Trijbels, J.M.F.
	1995	Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida [short report]	Put, N.M.J. van der; Steegers-Theunissen, R.P.M.; Frosst, P.; Trijbels, J.M.F.; Eskes, T.K.A.B.; Heyer, M. den; Rozen, R.; Blom, H.J.
	1995	Isolated mitochondria from frozen muscle have limited value in diagnostics	Scholte, H.R.; Trijbels, J.M.F.
	1995	Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosporylation complexes in mitochondrial encephalomyopathies	Bentlage, H.A.C.M.; Coo, I.F.M. de; Laak, H.J. ter; Sengers, R.C.A.; Trijbels, J.M.F.; Ruitenbeek, W.; Schlote, W.; Pfeiffer, K.; Gencic, S.; Jagow, G. von; Schägger, H.

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