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Leo A J Kluijtmans

Showing results (1-10 of 80) with videos related to

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Pediatric Nephrology (Berlin, Germany)|June 10, 2015
Urinary excretion of polyols and sugars in children with chronic kidney diseaseKoen Vanlede, Leo A J Kluijtmans, Leo Monnens, et al.
Annals of Clinical Biochemistry|January 25, 2003
Genetics of hyperhomocysteinaemia in cardiovascular diseaseKarin J A Lievers, Leo A J Kluijtmans, Henk J Blom
European Journal of Human Genetics : EJHG|July 9, 2004
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosisHenkjan Gellekink, Martin den Heijer, Leo A J Kluijtmans, et al.
JIMD Reports|April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectSaskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Pharmacological Reviews|November 14, 2002
Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart diseaseAngelika De Bree, W M Monique Verschuren, Daan Kromhout, et al.
Journal of Inherited Metabolic Disease|September 8, 2010
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiencyJakub Krijt, Jana Kopecká, Aleš Hnízda, et al.
Critical Care Medicine|January 8, 2008
Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosisMiriam Moviat, Anniek M Terpstra, Wim Ruitenbeek, et al.
International Medical Case Reports Journal|January 23, 2025
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the <i>TMLHE</i> Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual DisabilityWillem M A Verhoeven, Rolph Pfundt, Udo F H Engelke, et al.
Molecular Genetics and Metabolism|March 22, 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 defectsLydia A Afman, Karin J A Lievers, Leo A J Kluijtmans, et al.
JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.
Pageof 8

Showing results (1-10 of 80) with videos related to

Sort By:
Pageof 8
Pediatric Nephrology (Berlin, Germany)|June 10, 2015
Urinary excretion of polyols and sugars in children with chronic kidney diseaseKoen Vanlede, Leo A J Kluijtmans, Leo Monnens, et al.
Annals of Clinical Biochemistry|January 25, 2003
Genetics of hyperhomocysteinaemia in cardiovascular diseaseKarin J A Lievers, Leo A J Kluijtmans, Henk J Blom
European Journal of Human Genetics : EJHG|July 9, 2004
Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosisHenkjan Gellekink, Martin den Heijer, Leo A J Kluijtmans, et al.
JIMD Reports|April 24, 2014
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectSaskia B Wortmann, Leo A J Kluijtmans, Silvia Sequeira, et al.
Pharmacological Reviews|November 14, 2002
Homocysteine determinants and the evidence to what extent homocysteine determines the risk of coronary heart diseaseAngelika De Bree, W M Monique Verschuren, Daan Kromhout, et al.
Journal of Inherited Metabolic Disease|September 8, 2010
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiencyJakub Krijt, Jana Kopecká, Aleš Hnízda, et al.
Critical Care Medicine|January 8, 2008
Contribution of various metabolites to the "unmeasured" anions in critically ill patients with metabolic acidosisMiriam Moviat, Anniek M Terpstra, Wim Ruitenbeek, et al.
International Medical Case Reports Journal|January 23, 2025
X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the <i>TMLHE</i> Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual DisabilityWillem M A Verhoeven, Rolph Pfundt, Udo F H Engelke, et al.
Molecular Genetics and Metabolism|March 22, 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 defectsLydia A Afman, Karin J A Lievers, Leo A J Kluijtmans, et al.
JIMD Reports|May 6, 2016
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase DeficiencyAnne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, et al.
Pageof 8