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Hydrogen cyanide emission in the lung by Staphylococcus aureus.
Neerincx AH, Linders YA, Vermeulen L, Belderbos RA, Mandon J, van Mastrigt E, Pijnenburg MW, van Ingen J, Mouton JW, Kluijtmans LA, Wevers RA, Harren FJ, Cristescu SM, Merkus PJ. Neerincx AH, et al. Among authors: wevers ra. Eur Respir J. 2016 Aug;48(2):577-9. doi: 10.1183/13993003.02093-2015. Epub 2016 May 26. Eur Respir J. 2016. PMID: 27230439 Free article. No abstract available.
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA. Engelke UF, et al. Among authors: wevers ra. Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18. Biochim Biophys Acta. 2010. PMID: 20600873 Free PMC article.
The 3-methylglutaconic acidurias: what's new?
Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. Wortmann SB, et al. Among authors: wevers ra. J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. J Inherit Metab Dis. 2012. PMID: 20882351 Free PMC article. Review.
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. Wortmann SB, et al. Among authors: wevers ra. J Inherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6. Epub 2013 Jan 25. J Inherit Metab Dis. 2013. PMID: 23355087
529 results