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Severe early onset ethylmalonic encephalopathy with West syndrome.
Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A. Papetti L, et al. Among authors: zeviani m. Metab Brain Dis. 2015 Dec;30(6):1537-45. doi: 10.1007/s11011-015-9707-8. Epub 2015 Jul 21. Metab Brain Dis. 2015. PMID: 26194623
Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Tiranti V, Zeviani M. Tiranti V, et al. Among authors: zeviani m. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. Cold Spring Harb Perspect Biol. 2013. PMID: 23284046 Free PMC article. Review.
MtDNA-maintenance defects: syndromes and genes.
Viscomi C, Zeviani M. Viscomi C, et al. Among authors: zeviani m. J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324239 Free PMC article. Review.
469 results