Rezultaty - Lodewijk IJlst
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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA an... od Lodewijk IJlst, Jos P.N. Ruiter, J.M.N. Hoovers, Marja E. Jakobs, Ronald J. A. Wanders
Wydane 1996Artigo -
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The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives od Annet M. Bosch, Kevin Stroek, N. G. G. M. Abeling, Hans R. Waterham, Lodewijk IJlst, Ronald J. A. Wanders
Wydane 2012Revisão -
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Genistein in Sanfilippo disease: A randomized controlled crossover trial od Jessica de Ruijter, Marlies J. Valstar, Magdalena Narajczyk, Grzegorz Węgrzyn, Wim Kulik, Lodewijk IJlst, Tom Wagemans, Willem M. van der Wal, Frits A. Wijburg
Wydane 2011Artigo -
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Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency od Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout, Janet Koster, Carlo W.T. van Roermund, Lodewijk IJlst, Ann B. Moser, Ronald J. A. Wanders, Hans R. Waterham
Wydane 2007Artigo -
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Identification of a Peroxisomal ATP Carrier Required for Medium-Chain Fatty Acid β-Oxidation and Normal Peroxisome Proliferation in <i>Saccharomyces cerevisiae</i> od Carlo W.T. van Roermund, Roy Drissen, Marlene van den Berg, Lodewijk IJlst, Ewald H. Hettema, Henk F. Tabak, Hans R. Waterham, Ronald J. A. Wanders
Wydane 2001Artigo -
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Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis od C. C. P. Aires, Lodewijk IJlst, Femke S. Stet, Carina Prip‐Buus, Isabel Tavares de Almeida, Marinus Durán, Ronald J. A. Wanders, M. F. B. Silva
Wydane 2009Artigo -
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Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle od Suzan J. G. Knottnerus, Jeannette C. Bleeker, Rob C. I. Wüst, Sacha Ferdinandusse, Lodewijk IJlst, Frits A. Wijburg, Ronald J. A. Wanders, Gepke Visser, Riekelt H. Houtkooper
Wydane 2018Revisão -
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<i>N</i> -lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids od Robert S. Jansen, Ruben D. Addie, Remco Merkx, Alexander Fish, Sunny Mahakena, Onno B. Bleijerveld, Maarten Altelaar, Lodewijk IJlst, Ronald J. A. Wanders, Piet Borst, Koen van de Wetering
Wydane 2015Artigo -
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Peroxisomal <scp>d</scp> -hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency od E.G. van Grunsven, E. van Berkel, Lodewijk IJlst, P. Vreken, Johannis B.C. de Klerk, Jerzy Adamski, Hugh Lemonde, Peter T. Clayton, D Cuebas, Ronald J. A. Wanders
Wydane 1998Artigo
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Biochemistry
Biology
Gene
Chemistry
Enzyme
Peroxisome
Beta oxidation
Internal medicine
Medicine
Mitochondrion
Fatty acid
Endocrinology
Mutation
Carnitine
Dehydrogenase
Metabolism
Cell biology
Genetics
Membrane
Molecular biology
Organelle
Peroxisomal targeting signal
Saccharomyces cerevisiae
Yeast
Acyl CoA dehydrogenase
Carnitine O-palmitoyltransferase
Cytosol
Gastroenterology
Metabolite
Mitochondrial DNA