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A Wanders

Showing results (131-140 of 480) with videos related to

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Biochimica Et Biophysica Acta|December 16, 2014
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesisMartin J A Schackmann, Rob Ofman, Inge M E Dijkstra, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 23, 2007
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiencyS A Thompson, J Calvin, S Hogg, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasmaSabine Grønborg, Ralph Krätzner, Juliane Spiegler, et al.
Biochimica Et Biophysica Acta|December 15, 2010
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidationCarlo W T van Roermund, Wouter F Visser, Lodewijk Ijlst, et al.
Human Molecular Genetics|November 22, 2002
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndromeSander M Houten, Joost Frenkel, Ger T Rijkers, et al.
The Biochemical Journal|December 19, 2006
Metabolite transport across the peroxisomal membraneWouter F Visser, Carlo W T van Roermund, Lodewijk Ijlst, et al.
Orphanet Journal of Rare Diseases|October 31, 2012
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectivesAnnet M Bosch, Kevin Stroek, Nico G Abeling, et al.
Neuromuscular Disorders : NMD|June 21, 2014
Rhabdomyolysis: review of the literatureR Zutt, A J van der Kooi, G E Linthorst, et al.
Neuropediatrics|June 15, 2006
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defectH Rosewich, H R Waterham, R J A Wanders, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorderSarar Mohamed, Ebtisam El-Meleagy, Abdelhaleem Nasr, et al.
Pageof 48

Showing results (131-140 of 480) with videos related to

Sort By:
Pageof 48
Biochimica Et Biophysica Acta|December 16, 2014
Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesisMartin J A Schackmann, Rob Ofman, Inge M E Dijkstra, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 23, 2007
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiencyS A Thompson, J Calvin, S Hogg, et al.
American Journal of Medical Genetics. Part A|October 16, 2010
Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasmaSabine Grønborg, Ralph Krätzner, Juliane Spiegler, et al.
Biochimica Et Biophysica Acta|December 15, 2010
Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidationCarlo W T van Roermund, Wouter F Visser, Lodewijk Ijlst, et al.
Human Molecular Genetics|November 22, 2002
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndromeSander M Houten, Joost Frenkel, Ger T Rijkers, et al.
The Biochemical Journal|December 19, 2006
Metabolite transport across the peroxisomal membraneWouter F Visser, Carlo W T van Roermund, Lodewijk Ijlst, et al.
Orphanet Journal of Rare Diseases|October 31, 2012
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectivesAnnet M Bosch, Kevin Stroek, Nico G Abeling, et al.
Neuromuscular Disorders : NMD|June 21, 2014
Rhabdomyolysis: review of the literatureR Zutt, A J van der Kooi, G E Linthorst, et al.
Neuropediatrics|June 15, 2006
Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defectH Rosewich, H R Waterham, R J A Wanders, et al.
American Journal of Medical Genetics. Part A|August 5, 2010
A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorderSarar Mohamed, Ebtisam El-Meleagy, Abdelhaleem Nasr, et al.
Pageof 48