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Species | Willem KulikSummaryAffiliation: Academic Medical Center Country: The Netherlands Publications
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Publications
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndromeWillem Kulik
Department of Clinical Chemistry, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
Clin Chem 54:371-8. 2008..Because early diagnosis and appropriate treatment are of key importance for the survival of affected boys, we developed a biochemical BTHS screening method based on analysis of the monolysocardiolipin:cardiolipin ratio in bloodspots...
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndromeRiekelt H Houtkooper
Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
Anal Biochem 387:230-7. 2009....
The enigmatic role of tafazzin in cardiolipin metabolismRiekelt H Houtkooper
University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
Biochim Biophys Acta 1788:2003-14. 2009..Transient expression of selected human tafazzin variants in BTHS fibroblasts showed for the first time in a human cell system that tafazzin lacking exon5 indeed functions in cardiolipin remodeling...
Detection of nonsterol isoprenoids by HPLC-MS/MSLinda Henneman
Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Paediatrics Emma Children s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
Anal Biochem 383:18-24. 2008..This method will be suitable for measuring profiles of isoprenoid intermediates in cells with compromised isoprenoid biosynthesis and for determining the specificity of potential inhibitors of the pathway...
The effect of blood transfusion on pulmonary permeability in cardiac surgery patients: a prospective multicenter cohort studyAlexander P J Vlaar
Department of Intensive Care Medicine, Academic Medical Center, Amsterdam, The Netherlands
Transfusion 52:82-90. 2012..Mediators of increased pulmonary vascular leakage after transfusion are unknown. We hypothesized that factors may include antibodies or bioactive lipids, which have been implicated in transfusion-related acute lung injury...
Identification and characterization of human cardiolipin synthaseRiekelt H Houtkooper
Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
FEBS Lett 580:3059-64. 2006..The possible implications for CL synthesis and remodeling are discussed...
Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidismGijs Afink
Laboratory Pediatric Endocrinology, Room G2 133, Academic Medical Center, University of Amsterdam, P O Box 22660, 1100 DD Amsterdam, The Netherlands
J Clin Endocrinol Metab 93:4894-901. 2008..The recent cloning of the human iodotyrosine deiodinase (IYD) gene enables the investigation of iodotyrosine dehalogenase deficiency, a form a primary hypothyroidism resulting from iodine wasting, at the molecular level...
HPLC-electrospray tandem mass spectrometry for rapid determination of dihydropyrimidine dehydrogenase activityAndre B P van Kuilenburg
Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Clin Chem 53:528-30. 2007..We developed a rapid and specific method to measure the DPD activity in peripheral blood mononuclear cells using HPLC tandem-mass spectrometry (HPLC-MS/MS)...
Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MSLinda Henneman
Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam, The Netherlands
Biochim Biophys Acta 1811:227-33. 2011..Our method can be used to test new inhibitors and their effect on overall isoprenoid biosynthesis...
The cellular and molecular mechanisms for neutropenia in Barth syndromeVahagn Makaryan
Department of Medicine, University of Washington, Seattle, WA, USA
Eur J Haematol 88:195-209. 2012....
Supernatant of aged erythrocytes causes lung inflammation and coagulopathy in a "two-hit" in vivo syngeneic transfusion modelAlexander P J Vlaar
Department of Intensive Care Medicine, Laboratory of Experimental Intensive Care and Anesthesiology, Academic Medical Center, Amsterdam, The Netherlands
Anesthesiology 113:92-103. 2010..Using a syngeneic in vivo transfusion model, we investigated whether transfusion of stored rat erythrocytes causes lung injury in healthy and in lipopolysaccharide-primed rats in a "two-hit" model of lung injury...
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage diseaseFredoen Valianpour
Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands
Clin Chem 50:403-9. 2004..CONCLUSIONS: The HPLC-tandem MS method for free sialic acid in urine is more rapid, accurate, sensitive, selective, and robust than earlier methods and may serve as a candidate reference method for free sialic acid in diagnosis of SSD...
