H. Overmars

发表

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase.

R. Wanders, M. Durán, A. V. Van Gennip, 2002, The Biochemical journal.

Simultaneous determination of catecholamines and metanephrines in urine by HPLC with fluorometric detection.

A. V. Van Gennip, P. Voûte, N. Abeling, 1984, Clinica chimica acta; international journal of clinical chemistry.

Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.

P. Vreken, R. Wanders, A. V. Van Gennip, 1999, Advances in experimental medicine and biology.

High-performance liquid chromatographic analysis of biogenic amines in cells and in culture media using on-line dialysis and trace enrichment.

A. V. van Kuilenburg, A. V. Van Gennip, P. Voûte, 1998, Journal of chromatography. B, Biomedical sciences and applications.

Compromised Intestinal Lipid Absorption in Mice with a Liver-Specific Deficiency of Liver Receptor Homolog 1

J. Auwerx, C. Argmann, D. Metzger, 2007, Molecular and Cellular Biology.

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

R. Wanders, F. Valianpour, P. Barth, 2002, Clinical chemistry.

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

P. Scambler, M. Durán, P. Clayton, 2003, Gut.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

U. Dillmann, S. Ferdinandusse, S. Denis, 2006, American journal of human genetics.

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse.

R. Wanders, P. A. Wood, F. Vaz, 2005, The Biochemical journal.

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

Developmental Changes of Bile Acid Composition and Conjugation in L- and D-Bifunctional Protein Single and Double Knockout Mice*

S. Ferdinandusse, S. Denis, R. Wanders, 2005, Journal of Biological Chemistry.

Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.

P. Vreken, R. Wanders, A. E. V. van Lint, 1998, Journal of chromatography. B, Biomedical sciences and applications.

CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts

P. Vreken, F. Baas, R. Wanders, 2007 .

The effect of linoleic acid supplementation on cardiolipin levels in fibroblasts of patients suffering from Barth syndrome; implications for treatment

R. Wanders, R. Wanders, F. Vaz, 2002 .

Tissue Carnitine Homeostasis in Very-Long-Chain Acyl-CoA Dehydrogenase–Deficient Mice

R. Wanders, M. Durán, E. Mayatepek, 2005, Pediatric Research.

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome‐deficient PEX2 Zellweger mice

S. Ferdinandusse, R. Wanders, M. Durán, 2007, Hepatology.

Biochemical monitoring of children with neuroblastoma.

P. Voûte, N. Abeling, H. Overmars, 1986, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

N. Abeling, H. Bakker, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Characterization of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MS.

I. T. de Almeida, R. Wanders, M. Durán, 2001, Clinical biochemistry.

Plasmaa analysis of di-and trihydroxycholestanoic acid diastereomers inn peroxisomal a-methylacyl-CoA racemase deficiency

P. Vreken, S. Ferdinandusse, S. Denis, 2007 .

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

P. Vreken, S. Ferdinandusse, S. Denis, 2001, Journal of lipid research.

Biogenic amine metabolite patterns in the urine of monoamine oxidase A-deficient patients. A possible tool for diagnosis

H. Brunner, N. Abeling, A. H. Gennip, 1994, Journal of Inherited Metabolic Disease.

Monoamine oxidase A deficiency: biogenic amine metabolites in random urine samples.

H. Brunner, N. Abeling, A. V. van Cruchten, 1998, Journal of neural transmission. Supplementum.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

P. Vreken, F. Baas, R. Wanders, 2002, The Journal of pediatrics.

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects

P. Vreken, R. Wanders, A. E. V. van Lint, 1999, Journal of Inherited Metabolic Disease.

Method for the quantitative assay of fatty acid-bile acid conjugates by tandem mass spectrometry.

A. Groen, I. Goldiner, H. Overmars, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment.

R. Wanders, F. Vaz, F. Valianpour, 2003, Journal of lipid research.

Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.

C. Ris-Stalpers, A. V. van Cruchten, G. Afink, 2008, The Journal of clinical endocrinology and metabolism.

Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography.

N. Abeling, H. Overmars, A. V. van Gennip, 1990, Clinical chemistry.

Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders

P. Vreken, R. Wanders, F. Valianpour, 2000, Journal of Inherited Metabolic Disease.

Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome

P. Vreken, J. Bene, B. Melegh, 2001, Journal of Inherited Metabolic Disease.

UvA-DARE ( Digital Academic Repository ) A mass spectrometric approach to investigate cardiolipin metabolism in Barth syndrome

R. Wanders, P. Barth, H. Overmars, 2007 .

Simultaneous Determination of Acidic3,4-Dihydroxyphenylalanine Metabolitesand 5-Hydroxyindole-3-acetic Acidin Urineby High-Performance LiquidChromatography

H. Overmars, vanGennip, 1990 .

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

R. Wanders, F. Valianpour, P. Barth, 2002, Clinical chemistry.