Frans J.M. Trijbels

Overview

Best Publications

• A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

  Nathalie M.J. van der Put;Fons Gabreëls;Erik M.B. Stevens;Jan A.M. Smeitink

  2066
  Citations

• Heterozygosity for Homocystinuria in Premature Peripheral and Cerebral Occlusive Arterial Disease

  Godfried H.J. Boers;Antony G.H. Smals;Frans J.M. Trijbels;Brian Fowler

  1055
  Citations

• Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

  Astrid M. T. Engbersen;Diana G. Franken;Godfried H. J. Boers;Erik M. B. Stevens

  588
  Citations

• Maternal hyperhomocysteinemia : a risk factor for neural-tube defects ?

  Régine P.M. Steegers-Theunissen;Godfried H.J. Boers;Frans J.M. Trijbels;James D. Finkelstein

  565
  Citations

• Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

  Antoon J.M. Janssen;Frans J.M. Trijbels;Rob C.A. Sengers;Jan A.M. Smeitink

  414
  Citations

• Folate, homocysteine and neural tube defects: an overview.

  van der Put Nm;van Straaten Hw;Trijbels Fj;Blom Hj

  412
  Citations

• Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss.

  Maurice G.A.J. Wouters;Godfried H.J. Boers;Henk J. Blom;Frans J.M. Trijbels

  385
  Citations

• Neural-tube defects and derangement of homocysteine metabolism.

  R. P. M. Steegers-Theunissen;G. H. J. Boers;F. J. M. Trijbels;T. K. A. B. Eskes

  383
  Citations

• The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

  Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets

  359
  Citations

• Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

  Lambert van den Heuvel;Wim Ruitenbeek;Roel Smeets;Zully Gelman-Kohan

  301
  Citations

• Treatment of mild hyperhomocysteinemia in vascular disease patients.

  D. G. Franken;G. H. J. Boers;H. J. Blom;F. J. M. Trijbels

  242
  Citations

• A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk

  Karin J. A. Lievers;Godfried H. J. Boers;Petra Verhoef;Martin Den Heijer

  228
  Citations

• Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

  Loeffen J;Elpeleg O;Smeitink J;Smeets R

  226
  Citations

• Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years.

  Godfried H. Boers;Anthony G. Smals;Frans J. Trijbels;Annelies I. Leermakers

  215
  Citations

• Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

  Marieke J.H. Coenen;Hana Antonicka;Cristina Ugalde;Florin Sasarman

  210
  Citations

• Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring

  N. M. J. van der Put;L. P. van den Heuvel;R. P. M. Steegers-Theunissen;F. J. M. Trijbels

  204
  Citations

• Molecular beacons: a new approach for semiautomated mutation analysis

  Belinda A. J. Giesendorf;Jacqueline A. M. Vet;Sanjay Tyagi;Ewald J. M. G. Mensink

  196
  Citations

• Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects

  Sandra G. Heil;Nathalie M.J. Van der Put;Erwin T. Waas;Martin den Heijer

  187
  Citations

• 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

  Angelika de Bree;W M Monique Verschuren;Anne-Lise Bjørke-Monsen;Nathalie M J van der Put

  186
  Citations

• Degradation of allantoin by Pseudomonas acidovorans.

  F. Trijbels;G.D. Vogels

  179
  Citations