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Page 1
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: krywawych s. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free PMC article.
Disrupted propionate metabolism evokes transcriptional changes in the heart by increasing histone acetylation and propionylation.
Park KC, Crump NT, Louwman N, Krywawych S, Cheong YJ, Vendrell I, Gill EK, Gunadasa-Rohling M, Ford KL, Hauton D, Fournier M, Pires E, Watson L, Roseman G, Holder J, Koschinski A, Carnicer R, Curtis MK, Zaccolo M, Hulikova A, Fischer R, Kramer HB, McCullagh JSO, Trefely S, Milne TA, Swietach P. Park KC, et al. Among authors: krywawych s. Nat Cardiovasc Res. 2023 Dec;2(12):1221-1245. doi: 10.1038/s44161-023-00365-0. Epub 2023 Nov 23. Nat Cardiovasc Res. 2023. PMID: 38500966 Free PMC article.
Cardiac Complications of Propionic and Other Inherited Organic Acidemias.
Park KC, Krywawych S, Richard E, Desviat LR, Swietach P. Park KC, et al. Among authors: krywawych s. Front Cardiovasc Med. 2020 Dec 22;7:617451. doi: 10.3389/fcvm.2020.617451. eCollection 2020. Front Cardiovasc Med. 2020. PMID: 33415129 Free PMC article. Review.
Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism.
Baruteau J, Hargreaves I, Krywawych S, Chalasani A, Land JM, Davison JE, Kwok MK, Christov G, Karimova A, Ashworth M, Anderson G, Prunty H, Rahman S, Grünewald S. Baruteau J, et al. Among authors: krywawych s. Mitochondrion. 2014 Jul;17:150-6. doi: 10.1016/j.mito.2014.07.001. Epub 2014 Jul 8. Mitochondrion. 2014. PMID: 25010387
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Oerton J, Khalid JM, Besley G, Dalton RN, Downing M, Green A, Henderson M, Krywawych S, Leonard J, Andresen BS, Dezateux C. Oerton J, et al. Among authors: krywawych s. J Med Screen. 2011;18(4):173-81. doi: 10.1258/jms.2011.011086. Epub 2011 Dec 13. J Med Screen. 2011. PMID: 22166308 Free PMC article.
43 results