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Hans R Waterham

Showing results (51-60 of 223) with videos related to

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American Journal of Medical Genetics. Part A|March 24, 2016
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentationPeter Witters, Luc Régal, Hans R Waterham, et al.
Frontiers in Cell and Developmental Biology|February 7, 2022
Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD TransportersCarlo W T van Roermund, Lodewijk IJlst, Nicole Linka, et al.
Biochimica Et Biophysica Acta|December 17, 2013
A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acidsCarlo W T van Roermund, Lodewijk Ijlst, Tom Wagemans, et al.
American Journal of Medical Genetics. Part A|October 24, 2014
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosisEmmanuel Scalais, Jean Bottu, Ronald J A Wanders, et al.
Pediatric Research|December 3, 2009
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyBianca T van Maldegem, Marinus Duran, Ronald 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.
Journal of Cell Science|January 20, 2004
Mevalonate kinase is a cytosolic enzyme in humansSietske Hogenboom, John J M Tuyp, Marc Espeel, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the NetherlandsSander M Houten, Christiaan S van Woerden, Frits A Wijburg, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|July 21, 2017
Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant FindingJeannette C Bleeker, Gepke Visser, Frits A Wijburg, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liverJeannette Gootjes, Hanna Mandel, Petra A W Mooijer, et al.
Pageof 23

Showing results (51-60 of 223) with videos related to

Sort By:
Pageof 23
American Journal of Medical Genetics. Part A|March 24, 2016
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentationPeter Witters, Luc Régal, Hans R Waterham, et al.
Frontiers in Cell and Developmental Biology|February 7, 2022
Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD TransportersCarlo W T van Roermund, Lodewijk IJlst, Nicole Linka, et al.
Biochimica Et Biophysica Acta|December 17, 2013
A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acidsCarlo W T van Roermund, Lodewijk Ijlst, Tom Wagemans, et al.
American Journal of Medical Genetics. Part A|October 24, 2014
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosisEmmanuel Scalais, Jean Bottu, Ronald J A Wanders, et al.
Pediatric Research|December 3, 2009
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyBianca T van Maldegem, Marinus Duran, Ronald 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.
Journal of Cell Science|January 20, 2004
Mevalonate kinase is a cytosolic enzyme in humansSietske Hogenboom, John J M Tuyp, Marc Espeel, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the NetherlandsSander M Houten, Christiaan S van Woerden, Frits A Wijburg, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|July 21, 2017
Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant FindingJeannette C Bleeker, Gepke Visser, Frits A Wijburg, et al.
Advances in Experimental Medicine and Biology|January 10, 2004
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liverJeannette Gootjes, Hanna Mandel, Petra A W Mooijer, et al.
Pageof 23