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Pediatric Research
|
September 9, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
Celia Perez-Cerda, Judit García-Villoria, Rob Ofman, et al.
Journal of Inherited Metabolic Disease
|
March 27, 2012
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
Marc Engelen, Martin J A Schackmann, Rob Ofman, et al.
The New England Journal of Medicine
|
January 22, 2010
Lovastatin in X-linked adrenoleukodystrophy
Marc Engelen, Rob Ofman, Marcel G W Dijkgraaf, et al.
American Journal of Human Genetics
|
December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
Ference J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Plos One
|
April 29, 2016
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
Malu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, et al.
Mitochondrion
|
January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
Kathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Human Molecular Genetics
|
April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 18, 2019
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
Kevin Berendse, Maxim Boek, Marion Gijbels, et al.
Molecular & Cellular Proteomics : MCP
|
September 5, 2007
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling
Sebastian Wiese, Thomas Gronemeyer, Rob Ofman, et al.
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Search research articles
Search
Showing results (31-40 of 39) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 39 results.
Pediatric Research
|
September 9, 2005
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease
Celia Perez-Cerda, Judit García-Villoria, Rob Ofman, et al.
Journal of Inherited Metabolic Disease
|
March 27, 2012
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
Marc Engelen, Martin J A Schackmann, Rob Ofman, et al.
The New England Journal of Medicine
|
January 22, 2010
Lovastatin in X-linked adrenoleukodystrophy
Marc Engelen, Rob Ofman, Marcel G W Dijkgraaf, et al.
American Journal of Human Genetics
|
December 13, 2006
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
Ference J Loupatty, Peter T Clayton, Jos P N Ruiter, et al.
Plos One
|
April 29, 2016
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
Malu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, et al.
Mitochondrion
|
January 11, 2015
Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
Kathryn C Chatfield, Curtis R Coughlin, Marisa W Friederich, et al.
Human Molecular Genetics
|
April 28, 2017
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
Iliana A Chatzispyrou, Marielle Alders, Sergio Guerrero-Castillo, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
June 18, 2019
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
Kevin Berendse, Maxim Boek, Marion Gijbels, et al.
Molecular & Cellular Proteomics : MCP
|
September 5, 2007
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling
Sebastian Wiese, Thomas Gronemeyer, Rob Ofman, et al.
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of 4