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Nederlands Tijdschrift Voor Geneeskunde|March 6, 2014
[Hereditary fructose intolerance]Lynne Rumping, Hans R Waterham, Irene Kok, et al.
BMJ Case Reports|December 4, 2012
Corneal depositions in tyrosinaemia type I during treatment with NitisinoneRobert P L Wisse, Dienke Wittebol-Post, Gepke Visser, et al.
Journal of Lipid and Atherosclerosis|October 7, 2020
Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to TreatmentRonald J A Wanders, Gepke Visser, Sacha Ferdinandusse, et al.
Orphanet Journal of Rare Diseases|April 11, 2014
Liver transplantation in glycogen storage disease type ISusanna J B Boers, Gepke Visser, Peter G P A Smit, et al.
Journal of Inherited Metabolic Disease|January 8, 2022
Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approachLoek L Crefcoeur, Gepke Visser, Sacha Ferdinandusse, et al.
Journal of Inherited Metabolic Disease|February 4, 2010
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiencyHidde H Huidekoper, Gepke Visser, Mariëtte T Ackermans, et al.
Pediatrics|April 3, 2002
A rare presentation of childhood pompe disease: cardiac involvement provoked by Epstein-Barr virus infectionMelle D Talsma, Marian A Kroos, Gepke Visser, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 21, 2014
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse modelsEugene F Diekman, Michel van Weeghel, Ronald J A Wanders, et al.
Analytical and Bioanalytical Chemistry|July 11, 2020
Development and validation of a gas chromatography-mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasmaDewi van Harskamp, Suzan J G Knottnerus, Gepke Visser, et al.
European Journal of Pediatrics|October 10, 2002
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)Jan Peter Rake, Gepke Visser, Philippe Labrune, et al.
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