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Leo A. J. Kluijtmans

Leo A. J. Kluijtmans

D-Index & Metrics

Biology and Biochemistry

D-Index
51
Citations
16714
World Ranking
16939
National Ranking
413

Overview

Leo A. J. Kluijtmans is affiliated with Radboud University in the Netherlands. Their research spans several interconnected fields within biochemistry, genetics, molecular biology, and medicine. The main focus areas include metabolism and genetic disorders, metabolomics and mass spectrometry studies, genomics and rare diseases, mitochondrial function and pathology, diet and metabolism studies, bioinformatics and genomic networks, and liver disease diagnosis and treatment.

Their scholarly output comprises publications in a range of journals and venues, with frequent contributions to:

  • JIMD Reports
  • Genetics in Medicine
  • Metabolites
  • Metabolomics
  • bioRxiv (Cold Spring Harbor Laboratory)

Subfields of study that characterize their work include molecular biology, clinical biochemistry, genetics, physiology, and epidemiology. These areas frame a multidisciplinary approach to understanding biochemical and genetic processes underlying human health.

Notable recent papers authored or co-authored by Leo A. J. Kluijtmans include:

  • Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy, 2021, Journal of Clinical Investigation
  • Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism, 2021, Communications Biology
  • Metabolite Identification Using Infrared Ion SpectroscopyNovel Biomarkers for Pyridoxine-Dependent Epilepsy, 2021, Analytical Chemistry
  • Cerebrotendinous xanthomatosis without neurological involvement, 2021, Journal of Internal Medicine
  • A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics, 2020, Metabolomics

Collaboration is a consistent element of their research, with frequent co-authors being:

  • Udo F. H. Engelke
  • Ron A. Wevers
  • Karlien L. M. Coene
  • Marleen C.D.G. Huigen
  • Clara D.M. van Karnebeek

Their publication record reflects involvement in 60 articles classified under biochemistry, genetics, and molecular biology, and 32 under medicine. This demonstrates a breadth of research integrating molecular insights with clinical applications.

Best Publications

  • A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

    P. Frosst;H. J. Blom;R. Milos;P. Goyette

  • Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.

    L. A. J. Kluijtmans;L. P. W. J. Van Den Heuvel;G. H. J. Boers;P. Frosst

  • 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

  • Homocysteine Determinants and the Evidence to What Extent Homocysteine Determines the Risk of Coronary Heart Disease

    Angelika De Bree;W. M. Monique Verschuren;Daan Kromhout;Leo A. J. Kluijtmans

  • Cystathionine β‐synthase mutations in homocystinuria

    Jan P. Kraus;Miroslav Janošík;Viktor Kožich;Roseann Mandell

  • 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

  • Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.

    Leo A. J. Kluijtmans;Ian S. Young;Colin A. Boreham;Liam Murray

  • Exome Sequencing and the Management of Neurometabolic Disorders

    Maja Tarailo-Graovac;Maja Tarailo-Graovac;Casper Shyr;Colin J. Ross;Gabriella A. Horvath;Gabriella A. Horvath

  • Thermolabile Methylenetetrahydrofolate Reductase in Coronary Artery Disease

    L.A.J. Kluijtmans;J.J.P. Kastelein;J. Lindemans;G.H.J. Boers

  • Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease.

    N. M. J. Van Der Put;E. F. Van Der Molen;L. A. J. Kluijtmans;S. G. Heil

  • SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

    Rosalba Carrozzo;Carlo Dionisi-Vici;Ulrike Steuerwald;Simona Lucioli

  • Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

    Saskia B Wortmann;Frédéric M Vaz;Thatjana Gardeitchik;Lisenka E L M Vissers

  • Does the Interaction between Maternal Folate Intake and the Methylenetetrahydrofolate Reductase Polymorphisms Affect the Risk of Cleft Lip with or without Cleft Palate

    Iris A. L. M. van Rooij;Christl Vermeij-Keers;Leo A. J. Kluijtmans;Marga C. Ocké

  • 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

  • Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

    Karlien L. M. Coene;Leo A. J. Kluijtmans;Ed van der Heeft;Udo F. H. Engelke

  • The 677C->T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease

    Petra Verhoef;Frans J Kok;Leo A.J Kluijtmans;Henk J Blom

  • NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    Clara D M van Karnebeek;Luisa Bonafé;Xiao-Yan Wen;Xiao-Yan Wen;Maja Tarailo-Graovac

  • The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

    Leo A.J. Kluijtmans;Godfried H.J. Boers;Jan P. Kraus;Lambert P. W.J. van den Heuvel

  • Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

    L.A.J. Kluijtmans;G.H.J. Boers;E.M.B. Stevens;W.O. Renier

  • 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

    Saskia B. Wortmann;Leo A. J. Kluijtmans;Richard J. Rodenburg;Jörn Oliver Sass

Frequent Co-Authors

Ron A. Wevers
Ron A. Wevers Radboud University
Henk J. Blom
Henk J. Blom Erasmus MC
Eva Morava
Eva Morava Mayo Clinic
Jos Oomens
Jos Oomens Radboud University
Martin den Heijer
Martin den Heijer University of Amsterdam
Frans J.M. Trijbels
Frans J.M. Trijbels Radboud University
Richard J. Rodenburg
Richard J. Rodenburg Radboud University
Alexander S. Whitehead
Alexander S. Whitehead University of Pennsylvania
Wyeth W. Wasserman
Wyeth W. Wasserman University of British Columbia
Giel Berden
Giel Berden Radboud University

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