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Page 1
Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM; GACR Bird's Eye View Consortium; Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S. Balfoort BM, et al. Among authors: denis sw. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108542. doi: 10.1016/j.ymgme.2024.108542. Epub 2024 Jul 19. Mol Genet Metab. 2024. PMID: 39053126 Free article.
Toxicity of peroxisomal C27-bile acid intermediates.
Ferdinandusse S, Denis S, Dacremont G, Wanders RJ. Ferdinandusse S, et al. Mol Genet Metab. 2009 Mar;96(3):121-8. doi: 10.1016/j.ymgme.2008.11.165. Epub 2009 Jan 10. Mol Genet Metab. 2009. PMID: 19136287
Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.
Veenvliet ARJ, Garrelfs MR, Udink Ten Cate FEA, Ferdinandusse S, Denis S, Fuchs SA, Schwantje M, Geurtzen R, van Wegberg AMJ, Huigen MCDG, Kluijtmans LAJ, Wanders RJA, Derks TGJ, de Boer L, Houtkooper RH, de Vries MC, van Karnebeek CDM. Veenvliet ARJ, et al. Mol Genet Metab Rep. 2022 May 4;31:100873. doi: 10.1016/j.ymgmr.2022.100873. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35782614 Free PMC article.
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH. Chatzispyrou IA, et al. Among authors: denis sw. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251684 Free article.
Bile acids: the role of peroxisomes.
Ferdinandusse S, Denis S, Faust PL, Wanders RJ. Ferdinandusse S, et al. J Lipid Res. 2009 Nov;50(11):2139-47. doi: 10.1194/jlr.R900009-JLR200. Epub 2009 Apr 8. J Lipid Res. 2009. PMID: 19357427 Free PMC article. Review.
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
Ferdinandusse S, Jimenez-Sanchez G, Koster J, Denis S, Van Roermund CW, Silva-Zolezzi I, Moser AB, Visser WF, Gulluoglu M, Durmaz O, Demirkol M, Waterham HR, Gökcay G, Wanders RJ, Valle D. Ferdinandusse S, et al. Hum Mol Genet. 2015 Jan 15;24(2):361-70. doi: 10.1093/hmg/ddu448. Epub 2014 Aug 28. Hum Mol Genet. 2015. PMID: 25168382
78 results