Ohcanbohtosat - Rob Ofman
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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene Dahkki 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
Almmustuhtton 2003Artigo -
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The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy Dahkki 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
Almmustuhtton 2010Artigo -
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The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey Dahkki 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
Almmustuhtton 2013Artigo -
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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration Dahkki 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
Almmustuhtton 2006Artigo -
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing Dahkki 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
Almmustuhtton 2015Artigo -
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C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man Dahkki 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
Almmustuhtton 2016Artigo -
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A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome Dahkki 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
Almmustuhtton 2017Artigo -
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Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling Dahkki 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
Almmustuhtton 2007Artigo
Ohcanreaiddut:
Laktáseaddji fáttát
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