Leo Kluijtmans: шукати на сайті Z-Library

Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi,

Рік:

2018

Мова:

english

Файл:

PDF, 1.13 MB

english, 2018

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

Eva Morava, Ulrike Steuerwald, Rosalba Carrozzo, Leo A.J. Kluijtmans, Frodi Joensen, René Santer, Carlo Dionisi-Vici, Ron A. Wevers

Журнал:

Mitochondrion

Рік:

2009

Мова:

english

Файл:

PDF, 318 KB

english, 2009

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

Журнал:

npj Genomic Medicine

Рік:

2020

Файл:

PDF, 1.77 MB

2020

Cystathionine β-synthase mutations in homocystinuria

Jan P. Kraus, Miroslav Janošík, Viktor Kožich, Roseann Mandell, Vivian Shih, M.P. Sperandeo, Gianfranco Sebastio, Raffaella de Franchis, Generoso Andria, Leo A.J. Kluijtmans, Henk Blom, Godfried H.J.

Журнал:

Human Mutation

Рік:

1999

Мова:

english

Файл:

PDF, 348 KB

english, 1999

Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia

Gerly M. van der Vleuten, Anneke Hijmans, Leo A.J. Kluijtmans, Henk J. Blom, Anton F.H. Stalenhoef, Jacqueline de Graaf

Журнал:

American Journal of Medical Genetics Part A

Рік:

2004

Мова:

english

Файл:

PDF, 57 KB

english, 2004

Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: A dutch population based case-control study

Jan-Willem Muntjewerff, Mechteld L.C. Hoogendoorn, René S. Kahn, Richard J. Sinke, Martin Den Heijer, Leo A.J. Kluijtmans, Henk J. Blom

Журнал:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Рік:

2005

Мова:

english

Файл:

PDF, 63 KB

english, 2005

Diversity of cystathionine β-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Petr Vyletal, Jitka Sokolová, David N. Cooper, Jan P. Kraus, Michael Krawczak, Guglielmina Pepe, Olga Rickards, Hans G. Koch, Michael Linnebank, Leo A. J. Kluijtmans, Henk J. Blom, Godfried H. J. Boer

Журнал:

Human Mutation

Рік:

2007

Мова:

english

Файл:

PDF, 391 KB

english, 2007

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

Udo F. H. Engelke, Berry Kremer, Leo A. J. Kluijtmans, Marinette van der Graaf, Eva Morava, Ference J. Loupatty, Ronald J. A. Wanders, Detlef Moskau, Sandra Loss, Erik van den Bergh, Ron A. Wevers

Журнал:

NMR in Biomedicine

Рік:

2006

Мова:

english

Файл:

PDF, 211 KB

english, 2006

Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

Leo A. J. Kluijtmans, Henk J. Blom, Godfried H. J. Boers, Bernard A. Oost, Frans J. M. Trijbels, Lambert P. W. J. Heuvel

Журнал:

Human Genetics

Рік:

1995

Мова:

english

Файл:

PDF, 160 KB

english, 1995

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

Ivon J. M. van der Linden, Martin den Heijer, Lydia A. Afman, Henkjan Gellekink, Sita H. H. M. Vermeulen, Leo A. J. Kluijtmans, Henk J. Blom

Журнал:

Journal of Molecular Medicine

Рік:

2006

Мова:

english

Файл:

PDF, 200 KB

english, 2006

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk

Karin J. Lievers, Godfried H. Boers, Petra Verhoef, Martin Heijer, Leo A. Kluijtmans, Nathalie M. Put, Frans J. Trijbels, Henk J. Blom

Журнал:

Journal of Molecular Medicine

Рік:

2001

Мова:

english

Файл:

PDF, 79 KB

english, 2001

Methylmalonic acid values in healthy Dutch children

Marije Hogeveen, Ingrid van Beynum, Arno van Rooij, Leo Kluijtmans, Martin den Heijer, Henk Blom

Журнал:

European Journal of Nutrition

Рік:

2008

Мова:

english

Файл:

PDF, 293 KB

english, 2008

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

Sandra G. Heil, Marije Hogeveen, Leo A. J. Kluijtmans, P. J. van Dijken, Gerard B. van de Berg, Henk J. Blom, Eva Morava

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 173 KB

english, 2007

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

Jakub Krijt, Jana Kopecká, Aleš Hnízda, Stuart Moat, Leo A. J. Kluijtmans, Philip Mayne, Viktor Kožich

Журнал:

Saskia B. Wortmann, Leo A. Kluijtmans, Udo F. H. Engelke, Ron A. Wevers, Eva Morava

Рік:

2011

Мова:

english

Файл:

PDF, 188 KB

english, 2011

The 3-methylglutaconic acidurias: what’s new?

Журнал:

Kluijtmans, Leo AJ, Wendel, Udo, Stevens, Erik MB, van den Heuvel, Lambert PWJ, Trijbels, Frans JM, Blom, Henk J

Рік:

2012

Мова:

english

Файл:

PDF, 336 KB

english, 2012

Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency

Журнал:

Lievers, Karin J A, Kluijtmans, Leo A J, Heil, Sandra G, Boers, Godfried H J, Verhoef, Petra, van Oppenraay-Emmerzaal, Dinny, den Heijer, Martin, Trijbels, Frans J M, Blom, Henk J

Рік:

1998

Мова:

english

Файл:

PDF, 134 KB

english, 1998

A 31 bp VNTR in the cystathionine β-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels

Журнал:

Lievers, Karin J A, Kluijtmans, Leo A J, Heil, Sandra G, Boers, Godfried H J, Verhoef, Petra, den Heijer, Martin, Trijbels, Frans J M, Blom, Henk J

Рік:

2001

Мова:

english

Файл:

PDF, 188 KB

english, 2001

Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study

Журнал:

Gellekink, Henkjan, Heijer, Martin den, Kluijtmans, Leo A J, Blom, Henk J

Рік:

2003

Мова:

english

Файл:

PDF, 94 KB

english, 2003

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

Журнал:

Рік:

2004

Мова:

english

Файл:

PDF, 106 KB

english, 2004

Homocysteine levels – before and after methionine loading – in 51 Dutch families

den Heijer, Martin, Graafsma, Sietze, Lee, Soon Young, van Landeghem, Bart, Kluijtmans, Leo, Verhoef, Petra, Beaty, Terri H, Blom, Henk

Журнал:

Lievers, Karin J A, Kluijtmans, Leo A J, Blom, Henk J, Wilson, Peter W, Selhub, Jacob, Gottesman, Irving I

Рік:

2005

Мова:

english

Файл:

PDF, 116 KB

english, 2005

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

Журнал:

Leo A.J. Kluijtmans, Godfried H.J. Boers, Frans J.M. Trijbels, Henriëtte M.A. van Lith-Zanders, Lambert P.W.J. van den Heuvel, Henk J. Blom

Рік:

2006

Мова:

english

Файл:

PDF, 88 KB

english, 2006

A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene

Журнал:

Biochemical and Molecular Medicine

Рік:

1997

Мова:

english

Файл:

PDF, 70 KB

english, 1997

Rhabdomyolysis Caused by an Inherited Metabolic Disease: Very Long-chain Acyl-CoA Dehydrogenase Deficiency

Nicol C. Voermans, Baziel G. van Engelen, Leo A. Kluijtmans, Nike M. Stikkelbroeck, Ad R. Hermus

Журнал:

The American Journal of Medicine

Рік:

2006

Мова:

english

Файл:

PDF, 150 KB

english, 2006

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

Udo F.H. Engelke, Fokje S.M. Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, Leo A.J. Kluijtmans, András Perl, Nanda M. Verhoeven-Duif, Pascale de Lonlay, Mirjam M.C. Wamelink, Corneli

Журнал:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Рік:

2010

Мова:

english

Файл:

PDF, 849 KB

english, 2010

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

Martijn J. Wilmer, Leo A.J. Kluijtmans, Thea J. van der Velden, Peter H. Willems, Peter G. Scheffer, Rosalinde Masereeuw, Leo A. Monnens, Lambertus P. van den Heuvel, Elena N. Levtchenko

Журнал:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Рік:

2011

Мова:

english

Файл:

PDF, 655 KB

english, 2011

Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method

Mette Gaustadnes, Leo A.J Kluijtmans, Ole Kudsk Jensen, Karsten Rasmussen, Sandra G Heil, Jan P Kraus, Henk J Blom, Jørgen Ingerslev, Niels Rüdiger

Журнал:

FEBS Letters

Рік:

1998

Мова:

english

Файл:

PDF, 89 KB

english, 1998

The 2756A>G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study

Mariska Klerk, Karin J.A Lievers, Leo A.J Kluijtmans, Henk J Blom, Martin den Heijer, Evert G Schouten, Frans J Kok, Petra Verhoef

Журнал:

Thrombosis Research

Рік:

2003

Мова:

english

Файл:

PDF, 129 KB

english, 2003

The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene

Derval J. Gaughan, Sandrine Barbaux, Leo A.J. Kluijtmans, Alexander S. Whitehead

Журнал:

Gene

Рік:

2000

Мова:

english

Файл:

PDF, 454 KB

english, 2000

Gene–gene interaction between the cystathionine β-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

Lydia A Afman, Karin J.A Lievers, Leo A.J Kluijtmans, Frans J.M Trijbels, Henk J Blom

Журнал:

Molecular Genetics and Metabolism

Рік:

2003

Мова:

english

Файл:

PDF, 155 KB

english, 2003

The Molecular Basis of Cystathionine β-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, Johan R.M. Cruysberg, Frans J.M. Trijbels, Henk J. Blom

Журнал:

The American Journal of Human Genetics

Рік:

1999

Мова:

english

Файл:

PDF, 116 KB

english, 1999

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

Karen S Brown, Leo A.J Kluijtmans, Ian S Young, Liam Murray, Dorothy McMaster, Jayne V Woodside, John W.G Yarnell, Colin A Boreham, Helene McNulty, J.J Strain, Joseph McPartlin, John M Scott, Laura E

Журнал:

Рік:

2004

Мова:

english

Файл:

PDF, 108 KB

english, 2004

Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta

Sandra G. Heil, Leo A. Kluijtmans, An S. De Vriese, Rolph Pfundt, Henk J. Blom

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 132 KB

english, 2007

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency

Monica S. Rocha, Tom Teerlink, Mirian C.H. Janssen, Leo A.J. Kluijtmans, Yvo Smulders, Cornelis Jakobs, Isabel Tavares de Almeida, Isabel Rivera, Rita Castro, Henk J. Blom

Журнал:

Desirée E.C. Smith, Marisa I.S. Mendes, Leo A.J. Kluijtmans, Mirian C.H. Janssen, Yvo M. Smulders, Henk J. Blom

Рік:

2012

Мова:

english

Файл:

PDF, 244 KB

english, 2012

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

Журнал:

Journal of Chromatography B

Рік:

2012

Мова:

english

Файл:

PDF, 434 KB

english, 2012

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 W.G Yarnell, Alun Evans, Alexander S Whitehead

Журнал:

Karin J.A Lievers, Leo A.J Kluijtmans, Godfried H.J Boers, Petra Verhoef, Martin den Heijer, Frans J.M Trijbels, Henk J Blom

Рік:

2001

Мова:

english

Файл:

PDF, 103 KB

english, 2001

Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C→T) on plasma homocysteine, folate and vitamin B12 levels and its relationship to cardiovascular disease risk

Журнал:

Derval J. Gaughan, Leo A.J. Kluijtmans, Sandrine Barbaux, Dorothy McMaster, Ian S. Young, John W.G. Yarnell, Alun Evans, Alexander S. Whitehead

Рік:

2002

Мова:

english

Файл:

PDF, 122 KB

english, 2002

Corrigendum to “The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations” [ATH 157 (2001) 451–456]

Журнал:

Рік:

2003

Мова:

english

Файл:

PDF, 116 KB

english, 2003

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, Helga Refsum, Per M Ueland, Dick A.C.M Kruyssen

Журнал:

Wortmann, Saskia B., Kluijtmans, Leo A. J., Rodenburg, Richard J., Sass, JÃ¶rn Oliver, Nouws, Jessica, Kaauwen, Edwin P., Kleefstra, Tjitske, Tranebjaerg, Lisbeth, Vries, Maaike C., Isohanni, Pirjo, W

Рік:

1997

Мова:

english

Файл:

PDF, 417 KB

english, 1997

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

Журнал:

Heil, Sandra G., De Vriese, An S., Kluijtmans, Leo A.J., Dijkman, Henry, van Strien, Denise, Akkers, Robert, Blom, Henk J.

Рік:

2013

Мова:

english

Файл:

PDF, 210 KB

english, 2013

Cytochrome P450-2C11 mRNA Is Not Expressed in Endothelial Cells Dissected from Rat Renal Arterioles

Журнал:

Nephron Physiology

Рік:

2005

Мова:

english

Файл:

PDF, 224 KB

english, 2005

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia

Ven, Steffi, Gardeitchik, Thatjana, Kouwenberg, Dorus, Kluijtmans, Leo, Wevers, Ron, Morava, Eva

Журнал:

Ng, Kenneth, Vlaardingerbroek, Hester, Stoll, Barbara, van Goudoever, Hans, Kluijtmans, Leo, Olutoye, Oluyinka, Burrin, Douglas

Рік:

2014

Мова:

english

Файл:

PDF, 217 KB

english, 2014

706 Differential Molecular Regulation of Bile Acid Homeostasis by Soy Lipid Induced Phytosterolemia and FISH Oil Lipid Emulsions in TPN-Fed Preterm Pigs

Журнал:

Gastroenterology

Рік:

2012

Мова:

english

Файл:

PDF, 97 KB

english, 2012

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

Mendes, Marisa I. S., Colaço, Henrique G., Smith, Desirée E. C., Ramos, Rúben J. J. F., Pop, Ana, van Dooren, Silvy J. M., Tavares de Almeida, Isabel, Kluijtmans, Leo A. J., Janssen, Mirian C. H., Riv

Журнал: