Výsledky vyhledávání - Rob Ofman
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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene Autor 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
Vydáno 2003Artigo -
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The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy Autor 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
Vydáno 2010Artigo -
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The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey Autor 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
Vydáno 2013Artigo -
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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration Autor 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
Vydáno 2006Artigo -
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing Autor 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
Vydáno 2015Artigo -
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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man Autor 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
Vydáno 2016Artigo -
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome Autor 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
Vydáno 2017Artigo -
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Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling Autor 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
Vydáno 2007Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Biochemistry
Peroxisome
Enzyme
Chemistry
Genetics
Adrenoleukodystrophy
Internal medicine
Medicine
Molecular biology
Mutation
Receptor
Biogenesis
Cell biology
Disease
Endocrinology
Missense mutation
Mitochondrial DNA
Mitochondrial disease
Mitochondrion
Peroxisomal disorder
Proteome
Proteomics
RNA
ATP-binding cassette transporter
Acyl-CoA
Beta oxidation
Biomarker
Carnitine