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Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. Among authors: vermeersch p. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. Radenkovic S, et al. Among authors: vermeersch p. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982613 Free PMC article.
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.
Adant I, Bird M, Decru B, Windmolders P, Wallays M, de Witte P, Rymen D, Witters P, Vermeersch P, Cassiman D, Ghesquière B. Adant I, et al. Among authors: vermeersch p. Mol Metab. 2022 Sep;63:101537. doi: 10.1016/j.molmet.2022.101537. Epub 2022 Jun 27. Mol Metab. 2022. PMID: 35772644 Free PMC article.
Pseudohyperglycemia due to glucometer interference in galactosemia.
Decru B, Blanckaert H, Naulaers G, Vanhole C, Rymen D, Witters P, Van Wambeke I, Gillard P, Vermeersch P. Decru B, et al. Among authors: vermeersch p. Clin Chem Lab Med. 2023 Nov 30;62(5):e107-e109. doi: 10.1515/cclm-2023-1304. Print 2024 Apr 25. Clin Chem Lab Med. 2023. PMID: 38019925 No abstract available.
Dual loss of succinate dehydrogenase (SDH) and complex I activity is necessary to recapitulate the metabolic phenotype of SDH mutant tumors.
Lorendeau D, Rinaldi G, Boon R, Spincemaille P, Metzger K, Jäger C, Christen S, Dong X, Kuenen S, Voordeckers K, Verstreken P, Cassiman D, Vermeersch P, Verfaillie C, Hiller K, Fendt SM. Lorendeau D, et al. Among authors: vermeersch p. Metab Eng. 2017 Sep;43(Pt B):187-197. doi: 10.1016/j.ymben.2016.11.005. Epub 2016 Nov 12. Metab Eng. 2017. PMID: 27847310
359 results