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Human Molecular Genetics|April 18, 2000
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's diseaseG A Jansen, E M Hogenhout, S Ferdinandusse, et al.
Molecular Genetics and Metabolism|October 25, 2016
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissueMarli Dercksen, Marinus Duran, Lodewijk IJlst, et al.
The Journal of Biological Chemistry|September 3, 1998
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammalsN Kinoshita, K Ghaedi, N Shimozawa, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease typeL Van Maldergem, A B Moser, M-F Vincent, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 31, 1991
Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patientsR J Wanders, M Casteels, G P Mannaerts, et al.
The New England Journal of Medicine|April 27, 2007
A lethal defect of mitochondrial and peroxisomal fissionHans R Waterham, Janet Koster, Carlo W T van Roermund, et al.
Biochimica Et Biophysica Acta|May 7, 2013
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate estersM Dercksen, L IJlst, M Duran, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 17, 2013
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitinesSara Violante, Lodewijk Ijlst, Heleen Te Brinke, et al.
Scandinavian Journal of Gastroenterology|June 1, 2013
Microscopic colitis in Uppsala health region, a population-based prospective study 2005-2009Mari Thörn, Daniel Sjöberg, Anders Ekbom, et al.
Arthritis and Rheumatism|February 12, 2004
Responsiveness and discriminative capacity of the assessments in ankylosing spondylitis disease-controlling antirheumatic therapy core set and other outcome measures in a trial of etanercept in ankylosing spondylitisAstrid J B Wanders, Jennifer D Gorman, John C Davis, et al.
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