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FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: kava m. Mol Genet Metab. 2022 Jan;135(1):63-71. doi: 10.1016/j.ymgme.2021.12.001. Epub 2021 Dec 8. Mol Genet Metab. 2022. PMID: 34991945
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: kava m. Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21. Genet Med. 2020. PMID: 32313153 Free article.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C. Sue CM, et al. Among authors: kava m. Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19. Intern Med J. 2022. PMID: 34505344 Free PMC article.
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
Nickerson SL, Balasubramaniam S, Dryland PA, Love JM, Kava MP, Love DR, Prosser DO. Nickerson SL, et al. Among authors: kava mp. J Pediatr Genet. 2016 Sep;5(3):174-80. doi: 10.1055/s-0036-1584358. Epub 2016 Jun 15. J Pediatr Genet. 2016. PMID: 27617160 Free PMC article.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. Wintjes LTM, et al. Among authors: kava m. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. Hum Mutat. 2021. PMID: 33169484 Free PMC article.
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophy.
Vorster N, Evans K, Murphy N, Kava M, Cairns A, Clarke D, Ryan MM, Siafarikas A, Rowe PW, Parkinson S, Gaynor O, Chiu L, Anderson J, Bayley K, Jacoby P, Cross D, Downs J. Vorster N, et al. Among authors: kava m. Neuromuscul Disord. 2019 Mar;29(3):221-230. doi: 10.1016/j.nmd.2019.01.010. Epub 2019 Feb 2. Neuromuscul Disord. 2019. PMID: 30826157
30 results