Leo A J Kluijtmans

Leo A J Kluijtmans

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Leo A J Kluijtmans

Leo A J Kluijtmans

Publications by authors named "Leo A J Kluijtmans"

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Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective.

Anal Chim Acta 2020 Jan 24;1093:1-15. Epub 2019 Oct 24.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7, 6525 ED, Nijmegen, the Netherlands; van't Hoff Institute for Molecular Sciences, University of Amsterdam, 1098XH, Amsterdam, Science Park 908, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.aca.2019.10.043DOI Listing
January 2020

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology 2019 01 7;92(2):e83-e95. Epub 2018 Dec 7.

From the Department of Neurology (B.M.L.S.), Catharina Hospital, Eindhoven; Department of Neurology (B.M.L.S., A.V.), Canisius Wilhelmina Hospital, Nijmegen; Department of Pediatrics (H.H.H.), Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center-University Hospital, Rotterdam; Department of Neurology (B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour (B.P.C.v.d.W., R.A.W.), and Department of Laboratory Medicine (L.A.J.K., R.A.W.), Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen; Department of Genetics (E.H.B.), University Medical Center Utrecht; Department of Internal Medicine (C.E.M.H.), Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam; Department of Internal Medicine (H.R.H.), Máxima Medical Center Eindhoven; Department of Internal Medicine (H.R.H.), Maastricht University Medical Center; and CAPHRI School for Public Health and Primary Care, Ageing and Long-Term Care (H.R.H.), Maastricht University, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000006731DOI Listing
January 2019

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

J Inherit Metab Dis 2018 07 11;41(4):641-646. Epub 2017 Sep 11.

Department of Neurology, Canisius Wilhelmina Hospital, PO Box 9015, 6500GS, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0086-7DOI Listing
July 2018

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

J Inherit Metab Dis 2018 05 14;41(3):407-414. Epub 2017 Nov 14.

Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1007/s10545-017-0109-4DOI Listing
May 2018

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

J Inherit Metab Dis 2018 05 19;41(3):367-377. Epub 2018 Mar 19.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0161-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959965PMC
May 2018

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

J Inherit Metab Dis 2018 05 2;41(3):435-445. Epub 2018 May 2.

BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

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http://link.springer.com/10.1007/s10545-018-0139-6
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http://dx.doi.org/10.1007/s10545-018-0139-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959954PMC
May 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Molecular identification in metabolomics using infrared ion spectroscopy.

Sci Rep 2017 06 13;7(1):3363. Epub 2017 Jun 13.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41598-017-03387-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469762PMC
June 2017

Hydrogen cyanide emission in the lung by Staphylococcus aureus.

Eur Respir J 2016 08 26;48(2):577-9. Epub 2016 May 26.

Dept of Paediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands Dept of Paediatrics, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands Both authors contributed equally.

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http://dx.doi.org/10.1183/13993003.02093-2015DOI Listing
August 2016

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Metab Brain Dis 2016 06 19;31(3):587-92. Epub 2015 Dec 19.

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s11011-015-9778-6DOI Listing
June 2016

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

JIMD Rep 2017 14;32:33-39. Epub 2016 Jun 14.

Department of Laboratory Medicine, Laboratory of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Room Y2.125, HPA EA60, 30.001, NL-9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_564DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362552PMC
June 2016

Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

JIMD Rep 2017 5;31:95-99. Epub 2016 May 5.

Department of Internal Medicine, Radboud University Medical Center, 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5272844PMC
May 2016

Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon.

Front Microbiol 2015 6;6:1481. Epub 2016 Jan 6.

Department of Laboratory Medicine - Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center Nijmegen, Netherlands.

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http://dx.doi.org/10.3389/fmicb.2015.01481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701948PMC
January 2016

Urinary excretion of polyols and sugars in children with chronic kidney disease.

Pediatr Nephrol 2015 Sep 9;30(9):1537-40. Epub 2015 Jun 9.

Department of Pediatric Nephrology & Growth and Regeneration, University Hospitals Leuven & Katholieke Universiteit Leuven, Herestraat 49, 3000, Leuven, Belgium,

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http://dx.doi.org/10.1007/s00467-015-3135-1DOI Listing
September 2015

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

JIMD Rep 2014 23;16:1-6. Epub 2014 Apr 23.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/8904_2014_309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221300PMC
November 2014

Cerebral level of vGlut1 is increased and level of glycine is decreased in TgSwDI mice.

J Alzheimers Dis 2014 ;39(1):89-101

Department of Neurology, Department of Laboratory Medicine, Donders Institute for Brain, Cognition and Behaviour, Radboud Alzheimer Centre, Radboud university medical center, Nijmegen, The Netherlands Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud university medical center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.3233/JAD-130437DOI Listing
September 2014

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

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

J Chromatogr B Analyt Technol Biomed Life Sci 2012 Dec 3;911:186-91. Epub 2012 Nov 3.

Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S15700232120065
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http://dx.doi.org/10.1016/j.jchromb.2012.10.041DOI Listing
December 2012

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.

Atherosclerosis 2012 Jun 24;222(2):509-11. Epub 2012 Mar 24.

Department of Clinical Chemistry, Metabolic Unit, Institute for Cardiovascular Research (ICAR-VU), VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.atherosclerosis.2012.03.009DOI Listing
June 2012

Cysteamine restores glutathione redox status in cultured cystinotic proximal tubular epithelial cells.

Biochim Biophys Acta 2011 Jun 28;1812(6):643-51. Epub 2011 Feb 28.

Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.02.010DOI Listing
June 2011

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

J Inherit Metab Dis 2011 Feb 7;34(1):49-55. Epub 2010 Sep 7.

Institute of Inherited Metabolic Disorders--1st Faculty of Medicine, Charles University in Prague, Praha, Czech Republic.

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http://dx.doi.org/10.1007/s10545-010-9178-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3026677PMC
February 2011

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.

Biochim Biophys Acta 2010 Nov 18;1802(11):1028-35. Epub 2010 Jun 18.

Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2010.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3117462PMC
November 2010

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

Mitochondrion 2009 Nov 8;9(6):438-42. Epub 2009 Aug 8.

Departments of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2009.08.003DOI Listing
November 2009

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

Clin Dysmorphol 2008 Jul;17(3):195-8

Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3282fe99c4DOI Listing
July 2008

Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

J Inherit Metab Dis 2007 Oct 4;30(5):811. Epub 2007 Sep 4.

Department of Pediatrics, Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-007-0546-6DOI Listing
October 2007

The methionine synthase reductase 66A>G polymorphism is a maternal risk factor for spina bifida.

J Mol Med (Berl) 2006 Dec 6;84(12):1047-54. Epub 2006 Oct 6.

Laboratory of Pediatrics and Neurology (830), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/s00109-006-0093
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http://link.springer.com/10.1007/s00109-006-0093-x
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http://dx.doi.org/10.1007/s00109-006-0093-xDOI Listing
December 2006

Association of a 31 bp VNTR in the CBS gene with postload homocysteine concentrations in the Framingham Offspring Study.

Eur J Hum Genet 2006 Oct 21;14(10):1125-9. Epub 2006 Jun 21.

Department of Pediatrics and Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201677DOI Listing
October 2006

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism.

NMR Biomed 2006 Apr;19(2):271-8

Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/nbm.1018DOI Listing
April 2006

Cytochrome P450-2C11 mRNA is not expressed in endothelial cells dissected from rat renal arterioles.

Nephron Physiol 2005 30;99(2):p43-9. Epub 2004 Dec 30.

Laboratory of Pediatrics and Neurology, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1159/000083135DOI Listing
March 2006

Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis.

Eur J Hum Genet 2004 Nov;12(11):942-8

Laboratory of Pediatrics and Neurology, University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201237DOI Listing
November 2004

Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia.

Am J Med Genet A 2004 Sep;130A(1):73-5

Department of Medicine, Division of General Internal Medicine, University Medical Center Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30036DOI Listing
September 2004

The 5,10-methylenetetrahydrofolate reductase C677T polymorphism interacts with smoking to increase homocysteine.

Atherosclerosis 2004 Jun;174(2):315-22

Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104-6084, USA.

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http://dx.doi.org/10.1016/j.atherosclerosis.2004.01.023DOI Listing
June 2004

The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects.

Hum Genet 2004 Jan 25;114(2):182-5. Epub 2003 Oct 25.

Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104-6084, USA.

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http://dx.doi.org/10.1007/s00439-003-1039-9DOI Listing
January 2004

Genetic evidence that nitric oxide modulates homocysteine: the NOS3 894TT genotype is a risk factor for hyperhomocystenemia.

Arterioscler Thromb Vasc Biol 2003 Jun 10;23(6):1014-20. Epub 2003 Apr 10.

Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, 153 Johnson Pavilion, 3620 Hamilton Walk, Philadelphia, PA 19104-6084, USA.

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http://dx.doi.org/10.1161/01.ATV.0000071348.70527.F4DOI Listing
June 2003

Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.

Blood 2003 Apr;101(7):2483-8

Department of Pharmacology and Center for Pharmacogenetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1182/blood.V101.7.2483DOI Listing
April 2003

Gene-gene interaction between the cystathionine beta-synthase 31 base pair variable number of tandem repeats and the methylenetetrahydrofolate reductase 677C > T polymorphism on homocysteine levels and risk for neural tube defects.

Mol Genet Metab 2003 Mar;78(3):211-5

University Medical Center Nijmegen, Department of Pediatrics, Laboratory of Pediatrics and Neurology, PO Box 9101, 6500 HB Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/s1096-7192(03)00021-0DOI Listing
March 2003

Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study.

Eur J Hum Genet 2003 Jan;11(1):23-9

Laboratory of Pediatrics and Neurology, University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5200899DOI Listing
January 2003

Genetics of hyperhomocysteinaemia in cardiovascular disease.

Ann Clin Biochem 2003 Jan;40(Pt 1):46-59

Laboratory of Paediatrics and Neurology, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1258/000456303321016169DOI Listing
January 2003

Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart disease.

Pharmacol Rev 2002 Dec;54(4):599-618

Laboratory of Pediatrics and Neurology, University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1124/pr.54.4.599DOI Listing
December 2002

Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients.

Clin Chem 2002 Sep;48(9):1383-9

Departments of Pediatrics, Division of Endocrinology, University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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September 2002