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van de Beek, Malu-Clair, Dijkstra, Inge M E, van Lenthe, Henk, Ofman, Rob, Goldhaber-Pasillas, Dalia, Schauer, Nicolas, Schackmann, Martin, Engelen-Lee, Joo-Yeon, Vaz, Frédéric M, Kulik, Wim, Wanders, Ronald J A, Engelen, Marc, Kemp, Stephan
Published in PloS one (28.04.2016)
Published in PloS one (28.04.2016)
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Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome
Houtkooper, Riekelt H., Rodenburg, Richard J., Thiels, Charlotte, Lenthe, Henk van, Stet, Femke, Poll-The, Bwee Tien, Stone, Janet E., Steward, Colin G., Wanders, Ronald J., Smeitink, Jan, Kulik, Willem, Vaz, Frédéric M.
Published in Analytical biochemistry (15.04.2009)
Published in Analytical biochemistry (15.04.2009)
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Bloodspot Assay Using HPLC-Tandem Mass Spectrometry for Detection of Barth Syndrome
Kulik, Willem, van Lenthe, Henk, Stet, Femke S, Houtkooper, Riekelt H, Kemp, Helena, Stone, Janet E, Steward, Colin G, Wanders, Ronald J, Vaz, Frederic M
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Published in Clinical chemistry (Baltimore, Md.) (01.02.2008)
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Clinical Implications of Dihydropyrimidine Dehydrogenase (DPD) Deficiency in Patients with Severe 5-Fluorouracil-associated Toxicity: Identification of New Mutations in the DPD Gene
VAN KUILENBURG, André B. P, HAASJES, Janet, RICHEL, Dick J, ZOETEKOUW, Lida, VAN LENTHE, Henk, DE ABREU, Ronney A, MARING, Jan G, VREKEN, Peter, VAN GENNIP, Albert H
Published in Clinical cancer research (01.12.2000)
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Published in Clinical cancer research (01.12.2000)
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency
Ferdinandusse, Sacha, te Brinke, Heleen, Ruiter, Jos P.N., Haasjes, Janet, Oostheim, Wendy, Lenthe, Henk, IJlst, Lodewijk, Ebberink, Merel S., Wanders, Ronald J.A., Vaz, Frédéric M., Waterham, Hans R.
Published in Human mutation (01.10.2019)
Published in Human mutation (01.10.2019)
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An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
Vaz, Frédéric M., Lenthe, Henk, Vervaart, Martin A. T., Stet, Femke S., Klinkspoor, Johanne H., Vernon, Hilary J., Goorden, Susan M. I., Houtkooper, Riekelt H., Kulik, Willem, Wanders, Ronald J. A.
Published in Journal of inherited metabolic disease (01.01.2022)
Published in Journal of inherited metabolic disease (01.01.2022)
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A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans
Gao, Arwen W, Chatzispyrou, Iliana A, Kamble, Rashmi, Liu, Yasmine J, Herzog, Katharina, Smith, Reuben L, van Lenthe, Henk, Vervaart, Martin A T, van Cruchten, Arno, Luyf, Angela C, van Kampen, Antoine, Pras-Raves, Mia L, Vaz, Frédéric M, Houtkooper, Riekelt H
Published in Scientific reports (25.05.2017)
Published in Scientific reports (25.05.2017)
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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
Langereis, Eveline J, Wagemans, Tom, Kulik, Wim, Lefeber, Dirk J, van Lenthe, Henk, Oussoren, Esmee, van der Ploeg, Ans T, Ruijter, George J, Wevers, Ron A, Wijburg, Frits A, van Vlies, Naomi
Published in PloS one (25.09.2015)
Published in PloS one (25.09.2015)
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Supernatant of stored platelets causes lung inflammation and coagulopathy in a novel in vivo transfusion model
Vlaar, Alexander P.J., Hofstra, Jorrit J., Kulik, Wim, van Lenthe, Henk, Nieuwland, Rienk, Schultz, Marcus J., Levi, Marcel M., Roelofs, Joris J.T.H., Tool, Anton T.J., de Korte, Dirk, Juffermans, Nicole P.
Published in Blood (26.08.2010)
Published in Blood (26.08.2010)
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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Barendsen, Rinse W, Dijkstra, Inge M E, Visser, Wouter F, Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J, van der Crabben, Saskia N, Elsinghorst, Ellen, van Gorp, Ankie G M, Heijboer, Annemieke C, Jansen, Mandy, Jaspers, Yorrick R J, van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F, van der Sluijs, Elise H C, van Trotsenburg, A S Paul, Verschoof-Puite, Rendelien K, Vaz, Frédéric M, Waterham, Hans R, Wijburg, Frits A, Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Published in Frontiers in cell and developmental biology (17.06.2020)
Published in Frontiers in cell and developmental biology (17.06.2020)
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Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders
Jaspers, Yorrick R J, Ferdinandusse, Sacha, Dijkstra, Inge M E, Barendsen, Rinse Willem, van Lenthe, Henk, Kulik, Wim, Engelen, Marc, Goorden, Susan M I, Vaz, Frédéric M, Kemp, Stephan
Published in Frontiers in cell and developmental biology (29.07.2020)
Published in Frontiers in cell and developmental biology (29.07.2020)
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Identification and characterization of human cardiolipin synthase
Houtkooper, Riekelt H., Akbari, Hana, van Lenthe, Henk, Kulik, Willem, Wanders, Ronald J.A., Frentzen, Margrit, Vaz, Frédéric M.
Published in FEBS letters (29.05.2006)
Published in FEBS letters (29.05.2006)
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Gallstone Formation Follows a Different Trajectory in Bariatric Patients Compared to Nonbariatric Patients
Haal, Sylke, Guman, Maimoena S S, Acherman, Yair I Z, Jansen, Johannes P G, van Weeghel, Michel, van Lenthe, Henk, Wever, Eric J M, Gerdes, Victor E A, Voermans, Rogier P, Groen, Albert K
Published in Metabolites (05.10.2021)
Published in Metabolites (05.10.2021)
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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Barendsen, Rinse W, Dijkstra, Inge M E, Visser, Wouter F, Alders, Mariëlle, Bliek, Jet, Boelen, Anita, Bouva, Marelle J, van der Crabben, Saskia N, Elsinghorst, Ellen, van Gorp, Ankie G M, Heijboer, Annemieke C, Jansen, Mandy, Jaspers, Yorrick R J, van Lenthe, Henk, Metgod, Ingrid, Mooij, Christiaan F, van der Sluijs, Elise H C, van Trotsenburg, A S Paul, Verschoof-Puite, Rendelien K, Vaz, Frédéric M, Waterham, Hans R, Wijburg, Frits A, Engelen, Marc, Dekkers, Eugènie, Kemp, Stephan
Published in Frontiers in cell and developmental biology (2021)
Published in Frontiers in cell and developmental biology (2021)
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Defects in Pyrimidine Degradation Identified by HPLC-Electrospray Tandem Mass Spectrometry of Urine Specimens or Urine-soaked Filter Paper Strips
van Lenthe, Henk, van Kuilenburg, Andre B.P, Ito, Tetsuya, Bootsma, Albert H, van Cruchten, Arno, Wada, Yoshiro, van Gennip, Albert H
Published in Clinical chemistry (Baltimore, Md.) (01.12.2000)
Published in Clinical chemistry (Baltimore, Md.) (01.12.2000)
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Quantitative analysis of the experimental cytotoxic drug cyclopentenyl cytosine and its metabolite in plasma with HPLC tandem mass spectrometry
Schimmel, Kirsten, Lenthe, Henk van, Leen, Rene, Kulik, Willem, Verschuur, Arnauld, Guchelaar, Henk-Jan, Kuilenburg, André van
Published in Biomedical chromatography (01.12.2008)
Published in Biomedical chromatography (01.12.2008)
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