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R J Wanders

Showing results (481-490 of 497) with videos related to

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Nature Genetics|April 1, 1997
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptorA M Motley, E H Hettema, E M Hogenhout, et al.
Annals of Neurology|November 18, 1998
Clinical approach to inherited peroxisomal disorders: a series of 27 patientsM R Baumgartner, B T Poll-The, N M Verhoeven, et al.
American Journal of Human Genetics|December 5, 1998
Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghostsN Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
American Journal of Human Genetics|October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolismB S Andresen, E Christensen, T J Corydon, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Enzyme|January 1, 1987
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studiesR B Schutgens, R J Wanders, A Nijenhuis, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patientsR J Wanders, L Vilarinho, H P Hartung, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 15, 1987
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disordersR J Wanders, C W van Roermund, M J van Wijland, et al.
Pageof 50

Showing results (481-490 of 497) with videos related to

Sort By:
Pageof 50
Nature Genetics|April 1, 1997
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptorA M Motley, E H Hettema, E M Hogenhout, et al.
Annals of Neurology|November 18, 1998
Clinical approach to inherited peroxisomal disorders: a series of 27 patientsM R Baumgartner, B T Poll-The, N M Verhoeven, et al.
American Journal of Human Genetics|December 5, 1998
Genetic basis of peroxisome-assembly mutants of humans, Chinese hamster ovary cells, and yeast: identification of a new complementation group of peroxisome-biogenesis disorders apparently lacking peroxisomal-membrane ghostsN Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
American Journal of Human Genetics|October 3, 2000
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolismB S Andresen, E Christensen, T J Corydon, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, E A Kvittingen, et al.
Enzyme|January 1, 1987
Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studiesR B Schutgens, R J Wanders, A Nijenhuis, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patientsR J Wanders, L Vilarinho, H P Hartung, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 15, 1987
Peroxisomal very long-chain fatty acid beta-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disordersR J Wanders, C W van Roermund, M J van Wijland, et al.
Pageof 50