L
Leo A. J. Kluijtmans
Researcher at Radboud University Nijmegen
Publications - 137
Citations - 12940
Leo A. J. Kluijtmans is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Homocysteine & Hyperhomocysteinemia. The author has an hindex of 45, co-authored 131 publications receiving 12109 citations. Previous affiliations of Leo A. J. Kluijtmans include Radboud University Nijmegen Medical Centre & University of Pennsylvania.
Papers
More filters
Journal ArticleDOI
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
P. Frosst,Henk J. Blom,Renate Milos,Philippe Goyette,Christal A. Sheppard,Rowena G. Matthews,G. J.H. Boers,M. den Heijer,Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Rima Rozen +10 more
TL;DR: This work has identified a common mutation in MTHFR which alters a highly-conserved amino acid; the substitution occurs at a frequency of approximately 38% of unselected chromosomes and may represent an important genetic risk factor in vascular disease.
Journal Article
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
Leo A. J. Kluijtmans,L.P.W.J. van den Heuvel,Godfried H.J. Boers,P. Frosst,Erik M. B. Stevens,B.A. van Oost,M. den Heijer,F.J.M. Trijbels,Rima Rozen,Henk J. Blom +9 more
TL;DR: It is concluded that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease, however, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for prematurely cardiovascular disease.
Journal ArticleDOI
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen,Anu Suomalainen,Jenni M. Elo,Kirsi H. Pietiläinen,Anna H. Hakonen,Ksenia Sevastianova,Mari Päivikki Korpela,Pirjo Isohanni,Pirjo Isohanni,Sanna Marjavaara,Tiina Tyni,Tiina Tyni,Sari Kiuru-Enari,Helena Pihko,Niklas Darin,Katrin Õunap,Leo A. J. Kluijtmans,Anders Paetau,Jana Buzkova,Laurence A. Bindoff,Johanna Annunen-Rasila,Johanna Uusimaa,Aila Rissanen,Hannele Yki-Järvinen,Michio Hirano,Mar Tulinius,Jan A.M. Smeitink,Henna Tyynismaa +27 more
TL;DR: Measurement of FGF-21 concentrations in serum identified primary muscle-manifesting respiratory chain deficiencies in adults and children and might be feasible as a first-line diagnostic test for these disorders to reduce the need for muscle biopsy.
Journal ArticleDOI
Homocysteine Determinants and the Evidence to What Extent Homocysteine Determines the Risk of Coronary Heart Disease
TL;DR: O Ongoing intervention trials will indicate whether homocysteine-lowering through vitamin supplementation, prevents CHD in the treatment groups, and more research is necessary to elucidate whether these relations are not originating from residual confounding due to other lifestyle factors.
Journal ArticleDOI
The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations
Derval J. Gaughan,Leo A. J. Kluijtmans,Sandrine Barbaux,Dorothy McMaster,Ian S. Young,John Yarnell,Alun Evans,Alexander S. Whitehead +7 more
TL;DR: This study provides the first evidence that the MTRR A66G polymorphism significantly influences the circulating tHcy concentration, and estimates that 66AA homozygotes have, on average, an approximately 4% increase in cardiovascular disease risk compared to 66GG homozygote.