| A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase P Frosst, HJ Blom, R Milos, P Goyette, CA Sheppard, RG Matthews, ... Nature genetics 10 (1), 111-113, 1995 | 7629 | 1995 |
| Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. LA Kluijtmans, LP Van den Heuvel, GH Boers, P Frosst, EM Stevens, ... American journal of human genetics 58 (1), 35, 1996 | 936 | 1996 |
| FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study A Suomalainen, JM Elo, KH Pietiläinen, AH Hakonen, K Sevastianova, ... The Lancet Neurology 10 (9), 806-818, 2011 | 466 | 2011 |
| Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart disease A De Bree, WMM Verschuren, D Kromhout, LAJ Kluijtmans, HJ Blom Pharmacological reviews 54 (4), 599-618, 2002 | 432 | 2002 |
| The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations DJ Gaughan, LAJ Kluijtmans, S Barbaux, D McMaster, IS Young, ... Atherosclerosis 157 (2), 451-456, 2001 | 403 | 2001 |
| Cystathionine β‐synthase mutations in homocystinuria JP Kraus, M Janošík, V Kožich, R Mandell, V Shih, MP Sperandeo, ... Human Mutation 13 (5), 362-375, 1999 | 403 | 1999 |
| Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults LAJ Kluijtmans, IS Young, CA Boreham, L Murray, D McMaster, H McNulty, ... Blood, The Journal of the American Society of Hematology 101 (7), 2483-2488, 2003 | 326 | 2003 |
| Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016 | 313 | 2016 |
| Thermolabile methylenetetrahydrofolate reductase in coronary artery disease LAJ Kluijtmans, JJP Kastelein, J Lindemans, GHJ Boers, SG Heil, ... Circulation 96 (8), 2573-2577, 1997 | 308 | 1997 |
| Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? IALM van Rooij, C Vermeij-Keers, LAJ Kluijtmans, MC Ocké, GA Zielhuis, ... American journal of epidemiology 157 (7), 583-591, 2003 | 283 | 2003 |
| Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. NM Van der Put, EF Van der Molen, LA Kluijtmans, SG Heil, JM Trijbels, ... QJM: monthly journal of the Association of Physicians 90 (8), 511-517, 1997 | 252 | 1997 |
| SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness R Carrozzo, C Dionisi-Vici, U Steuerwald, S Lucioli, F Deodato, ... Brain 130 (3), 862-874, 2007 | 249 | 2007 |
| A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk KJ Lievers, GH Boers, P Verhoef, M Heijer, LA Kluijtmans, NM Put, ... Journal of molecular medicine 79, 522-528, 2001 | 237 | 2001 |
| Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ... Nature genetics 44 (7), 797-802, 2012 | 227 | 2012 |
| Analysis of the 677 C→ T mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups RF Franco, AG Araujo, JF Guerreiro, J Elion, MA Zago Thrombosis and haemostasis 59 (01), 119-121, 1998 | 225 | 1998 |
| Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis LAJ Kluijtmans, M Den Heijer, PH Reitsma, SG Heil, HJ Blom, ... Thrombosis and haemostasis 79 (02), 254-258, 1998 | 208 | 1998 |
| The Methylenetetrahydrofolate Reductase TT677 Genotype Is Associated with Venous Thrombosis Independently of the Coexistence of the FV Leiden and the Prothrombin M Margaglione, G D’Andrea, M d’Addedda, N Giuliani, G Cappucci, ... Thrombosis and haemostasis 79 (05), 907-911, 1998 | 186 | 1998 |
| Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients KLM Coene, LAJ Kluijtmans, E van der Heeft, UFH Engelke, S de Boer, ... Journal of inherited metabolic disease 41, 337-353, 2018 | 176 | 2018 |
| The 677C→ T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease P Verhoef, FJ Kok, LAJ Kluijtmans, HJ Blom, H Refsum, PM Ueland, ... Atherosclerosis 132 (1), 105-113, 1997 | 163 | 1997 |
| NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 153 | 2016 |
