Search Results - "Trijbels, Frans J.M."

A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? by van der Put, Nathalie M.J., Gabreëls, Fons, Stevens, Erik M.B., Smeitink, Jan A.M., Trijbels, Frans J.M., Eskes, Tom K.A.B., van den Heuvel, Lambert P., Blom, Henk J.

“…Recently, we showed that homozygosity for the common 677(C→T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the…”
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Folate, homocysteine and neural tube defects: an overview by van der Put, N M, van Straaten, H W, Trijbels, F J, Blom, H J

“…Folate administration substantially reduces the risk on neural tube detects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in…”
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Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology by Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Wintjes, Liesbeth T.M, Ruitenbeek, Wim, Smeitink, Jan A.M, Morava, Eva, van Engelen, Baziel G.M, van den Heuvel, Lambert P, Rodenburg, Richard J.T

“…Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function. We describe our diagnostic procedure and results for…”
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Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease by Boers, G H, Smals, A G, Trijbels, F J, Fowler, B, Bakkeren, J A, Schoonderwaldt, H C, Kleijer, W J, Kloppenborg, P W

“…Premature arteriosclerosis and thromboembolic events are well-known complications of homozygous homocystinuria due to cystathionine synthase deficiency. It is…”
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The H475Y polymorphism in the glutamate carboxypeptidase II gene increases plasma folate without affecting the risk for neural tube defects in humans by Afman, Lydia A, Trijbels, Frans J M, Blom, Henk J

“…In the diet, folate exists predominantly in the form of polyglutamates. Before absorption, these polyglutamates must be deconjugated to monoglutamates by the…”
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Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561c → T) on plasma homocysteine, folate and vitamin B12 levels and its relationship to cardiovascular disease risk by LIEVERS, Karin J. A, KLUIJTMANS, Leo A. J, BOERS, Godfried H. J, VERHOEF, Petra, DEN HEIJER, Martin, TRIJBELS, Frans J. M, BLOM, Henk J

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Polymorphisms in the Transcobalamin Gene: Association with Plasma Homocysteine in Healthy Individuals and Vascular Disease Patients by Lievers, Karin J.A, Afman, Lydia A, Kluijtmans, Leo A.J, Boers, Godfried H.J, Verhoef, Petra, den Heijer, Martin, Trijbels, Frans J.M, Blom, Henk J

“…Hyperhomocysteinemia is an independent risk factor for cardiovascular disease (CVD). Intracellular vitamin B(12) deficiency may lead to increased plasma total…”
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The homocysteine distribution: (Mis)judging the burden by de Bree, Angelika, Verschuren, W.M.Monique, Blom, Henk J, de Graaf-Hess, Adriana, Trijbels, Frans J.M, Kromhout, Daan

“…The nonfasting plasma total homocysteine (P-tHcy) concentration was measured in a random sample of 3025 Dutch adults aged 20–65 years (main study). The…”
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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts by Janssen, Antoon J.M, Trijbels, Frans J.M, Sengers, Rob C.A, Smeitink, Jan A.M, van den Heuvel, Lambert P, Wintjes, Liesbeth T.M, Stoltenborg-Hogenkamp, Berendien J.M, Rodenburg, Richard J.T

“…A reliable and sensitive complex I assay is an essential tool for the diagnosis of mitochondrial disorders, but current spectrophotometric assays suffer from…”
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Effect of the methylenetetrahydrofolate reductase 677C→T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample by DE BREE, Angelika, VERSCHUREN, W. M, BJØRKE-MONSEN, Anne-Lise, VAN DER PUT, Nathalie M. J, HEIL, Sandra G, TRIJBELS, Frans J. M, BLOM, Henk J

“…Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate and homocysteine metabolism. The common MTHFR 677C-->T polymorphism decreases the…”
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Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease by Kluijtmans, L A, van den Heuvel, L P, Boers, G H, Frosst, P, Stevens, E M, van Oost, B A, den Heijer, M, Trijbels, F J, Rozen, R, Blom, H J

“…Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and…”
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Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia by ENGBERSEN, A. M. T, FRANKEN, D. G, BOERS, G. H. J, STEVENS, E. M. B, TRIJBELS, F. J. M, BLOM, H. J

“…Thermolability of 5,10-methylenetetrahydrofolate reductase (MTHFR) was examined as a possible cause of mild hyperhomocysteinemia in patients with premature…”
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Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects by Afman, Lydia A, Lievers, Karin J A, van der Put, Nathalie M J, Trijbels, Frans J M, Blom, Henk J

“…Homocysteine levels are elevated in mothers of neural tube defect (NTD) children, which may be due to a disturbed folate or vitamin B12 metabolism. Vitamin B12…”
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Is Mutated Serine Hydroxymethyltransferase (SHMT) Involved in the Etiology of Neural Tube Defects? by Heil, Sandra G., Van der Put, Nathalie M.J., Waas, Erwin T., den Heijer, Martin, Trijbels, Frans J.M., Blom, Henk J.

“…Neural tube defects (NTD) arise in the first weeks of pregnancy due to a combination of environmental and genetic factors. In mothers of children with NTD…”
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Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system by Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.

“…Objective The mitochondrial energy‐generating system (MEGS) encompasses the mitochondrial enzymatic reactions from oxidation of pyruvate to the export of…”
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Coronary heart disease mortality, plasma homocysteine, and B-vitamins: a prospective study by de Bree, Angelika, Verschuren, W.Monique M., Blom, Henk J., Nadeau, Marie, Trijbels, Frans J.M., Kromhout, Daan

“…The results of prospective studies on the relations between the plasma concentration of total homocysteine (tHcy) and B-vitamins, on the one hand, and coronary…”
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Thermolabile methylenetetrahydrofolate reductase in coronary artery disease by KLUIJTMANS, L. A. J, KASTELEIN, J. J. P, VERHEUGT, F. W. A, WILLEMS, F, BLOM, H. J, LINDEMANS, J, BOERS, G. H. J, HEIL, S. G, BRUSCHKE, A. V. G, JUKEMA, J. W, VAN DEN HEUVEL, L. P. W. J, TRIJBELS, F. J. M, BOERMA, G. J. M

“…Hyperhomocysteinemia, an independent and graded risk factor for coronary artery disease (CAD), may result from both environmental and hereditary factors…”
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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene by Coenen, Marieke J. H., van den Heuvel, Lambert P., Ugalde, Cristina, ten Brinke, Marike, Nijtmans, Leo G. J., Trijbels, Frans J. M., Beblo, Skadi, Maier, Esther M., Muntau, Ania C., Smeitink, Jan A. M.

“…We report a cytochrome c oxidase (COX)–deficient patient, clinically affected with Leigh‐like disease, with a homozygous mutation in the COX10 start codon…”
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Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? by Steegers-Theunissen, R P, Boers, G H, Trijbels, F J, Finkelstein, J D, Blom, H J, Thomas, C M, Borm, G F, Wouters, M G, Eskes, T K

“…The maternal vitamin status, especially of folate, is involved in the pathogenesis of neural-tube defects (NTDs). Maternal folate administration can prevent…”
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Thiopurine methyltransferase in acute lymphoblastic leukaemia: biochemical and molecular biological aspects by Brouwer, Connie, De Abreu, Ronney A., Keizer-Garritsen, Jenneke J., Lambooy, Lambert H.J., Ament, Kai, ter Riet, Patricia G.J.H., van Wering, Elisabeth R., Trijbels, Frans J.M., Veerman, Anjo J.P., Hoogerbrugge, Peter M., Bökkerink, Jos P.M.

“…Thiopurine S-methyltransferase (TPMT) is a cytosolic enzyme, catalysing S-methylation of aromatic and heterocyclic sulphhydryl compounds. TPMT activities and…”
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