Rezultaty - Rob Ofman

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  1. 1
    Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

    Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2 od Rob Ofman

    Wydane 1998
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  2. 2
    Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity

    Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity od Rob Ofman, Dave Speijer, René Leen, Ronald J. A. Wanders

    Wydane 2005
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  3. 3
    The Nudix Hydrolase 7 is an Acyl-CoA Diphosphatase Involved in Regulating Peroxisomal Coenzyme A Homeostasis

    The Nudix Hydrolase 7 is an Acyl-CoA Diphosphatase Involved in Regulating Peroxisomal Coenzyme A Homeostasis od Sarah‐Jayne Reilly, Veronika Tillander, Rob Ofman, S. E. H. Alexson, Mary C. Hunt

    Wydane 2008
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  4. 4
    2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

    2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene od Rob Ofman, P.N. Jos Ruiter, Marike Feenstra, Marinus Durán, Bwee Tien Poll‐The, Johannes Zschocke, Regina Ensenauer, W. Lehnert, Jörn Oliver Sass, Wolfgang Sperl, Jennifer Wanders

    Wydane 2003
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  5. 5
    The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy

    The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy od Rob Ofman, Inge M. E. Dijkstra, Carlo W.T. van Roermund, Nena Burger, Marjolein Turkenburg, Arno van Cruchten, Catherine E. van Engen, Ronald J. A. Wanders, Stephan Kemp

    Wydane 2010
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  6. 6
    Lovastatin in X-Linked Adrenoleukodystrophy

    Lovastatin in X-Linked Adrenoleukodystrophy od Marc Engelen, Rob Ofman, Marcel G. W. Dijkgraaf, Michiel Hijzen, Lucinda A van der Wardt, Björn M. van Geel, Marjolein Visser, Ronald J. A. Wanders, Bwee Tien Poll‐The, Stephan Kemp

    Wydane 2010
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  7. 7
    The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

    The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey od Thomas Gronemeyer, Sebastian Wiese, Rob Ofman, Christian Bunse, Magdalena Pawlas, Heiko Hayen, Martin Eisenacher, Christoph Stephan, Helmut E. Meyer, Hans R. Waterham, Ralf Erdmann, Ronald J. A. Wanders, Bettina Warscheid

    Wydane 2013
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  8. 8
    Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration

    Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration od Ference J. Loupatty, Peter T. Clayton, Jos P.N. Ruiter, Rob Ofman, Lodewijk IJlst, Garry K. Brown, David R. Thorburn, Robert A. Harris, Marinus Durán, Carlos DeSousa, S. Krywawych, Simon Heales, Ronald J. A. Wanders

    Wydane 2006
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  9. 9
    Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

    Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing od Kathryn C. Chatfield, Curtis R. Coughlin, Marisa W. Friederich, Renata C. Gallagher, Jay R. Hesselberth, Mark A. Lovell, Rob Ofman, Michael A. Swanson, Janet A. Thomas, Ronald J. A. Wanders, Eric P. Wartchow, Johan L.K. Van Hove

    Wydane 2015
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  10. 10
    C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

    C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man od Malu-Clair van de Beek, Inge M. E. Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas, Nicolas Schauer, Martin J.A. Schackmann, JooYeon Engelen-Lee, Frédéric M. Vaz, Wim Kulik, Ronald J. A. Wanders, Marc Engelen, Stephan Kemp

    Wydane 2016
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  11. 11
    A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

    A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome od Iliana A. Chatzispyrou, Mariëlle Alders, Sergio Guerrero‐Castillo, Rubén Zapata‐Pérez, Martin A. Haagmans, Laurent Mouchiroud, Janet Koster, Rob Ofman, Frank Baas, Hans R. Waterham, Johannes N. Spelbrink, Johan Auwerx, Marcel M.A.M. Mannens, Riekelt H. Houtkooper, Astrid S. Plomp

    Wydane 2017
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  12. 12
    Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling

    Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling od Sebastian Wiese, Thomas Gronemeyer, Rob Ofman, Markus Kunze, Cláudia P. Grou, J. A. Afonso de Almeida, Martin Eisenacher, Christoph Stephan, Heiko Hayen, Lukas Schollenberger, Thomas Korosec, Hans R. Waterham, Wolfgang Schliebs, Ralf Erdmann, Johannes Berger, Helmut E. Meyer, Wilhelm W. Just, Jorge E. Azevedo, Ronald J. A. Wanders, Bettina Warscheid, Cláudia P. Grou

    Wydane 2007
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