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The first case of combined oxidative phosphorylation deficiency-1 due to a GFM1 mutation in the Serbian population: a case report and literature review.
Aleksic D, Jankovic MG, Todorovic S, Kovacevic M, Borkovic M. Aleksic D, et al. Turk J Pediatr. 2023;65(6):1018-1024. doi: 10.24953/turkjped.2022.1082. Turk J Pediatr. 2023. PMID: 38204316 Free article. Review.
BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G elongation factor mitochondrial 1 (GFM1) gene is an autosomal recessive multisystem disorder arising from a defect in the mitochondrial oxida …
BACKGROUND: Combined oxidative phosphorylation deficiency-1 (COXPD1) resulting from a mutation in the G e …
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM. O'Byrne JJ, et al. Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15. Mol Genet Metab. 2018. PMID: 29331171 Free PMC article.