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Reviews in Endocrine & Metabolic Disorders|June 22, 2018
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttleSuzan J G Knottnerus, Jeannette C Bleeker, Rob C I Wüst, et al.JIMD Reports|December 21, 2018
Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?Imre F Schene, Christoph G Korenke, Hidde H Huidekoper, et al.Plos One|March 12, 2015
Vitamin B6 in plasma and cerebrospinal fluid of childrenMonique Albersen, Marjolein Bosma, Judith J M Jans, et al.The Journal of Pediatrics|February 28, 2002
Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1aRobert H J Bandsma, Jan-Peter Rake, Gepke Visser, et al.Journal of Medical Genetics|May 15, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β geneMerel S Ebberink, Janet Koster, Gepke Visser, et al.Analytica Chimica Acta|December 4, 2014
Suitability of methylmalonic acid and total homocysteine analysis in dried bloodspotsMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.Molecular Genetics and Metabolism|May 4, 2013
Differences between acylcarnitine profiles in plasma and bloodspotsMonique G M de Sain-van der Velden, Eugene F Diekman, Judith J Jans, et al.Molecular Genetics and Metabolism Reports|April 19, 2021
Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouseEugène F Diekman, Michel van Weeghel, Mayte Suárez-Fariñas, et al.The Journal of Pediatrics|November 19, 2013
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinoneFatiha Bendadi, Tom J de Koning, Gepke Visser, et al.Molecular Genetics and Metabolism|April 9, 2013
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKUJudith J Jans, Monique G M de Sain-van der Velden, Peter M van Hasselt, et al.Pageof 9