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Orphanet Journal of Rare Diseases|March 21, 2013
In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypesCatharina M L Touw, G Peter A Smit, Klary E Niezen-Koning, et al.Ultrasound in Medicine & Biology|October 7, 2015
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and IIIRenate J Verbeek, Christiaan P Sentner, G Peter A Smit, et al.The Journal of Pediatrics|June 2, 2006
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcomeTerry G J Derks, Dirk-Jan Reijngoud, Hans R Waterham, et al.Pediatric Research|June 4, 2008
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1aRobert H J Bandsma, Berthil H Prinsen, Monique de Sain van Der Velden, 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.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 Hepatology|October 11, 2012
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type IJulien Calderaro, Philippe Labrune, Guillaume Morcrette, et al.Hepatology (Baltimore, Md.)|May 7, 2008
Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient miceHilde Herrema, Terry G J Derks, Theo H van Dijk, et al.Journal of Inherited Metabolic Disease|March 14, 2014
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiencyTerry G J Derks, Catharina M L Touw, Graziela S Ribas, et al.Human Mutation|March 19, 2013
A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharingAnnet Sollie, Rolf H Sijmons, Dick Lindhout, et al.Pageof 4