Page 200 - Read Online
P. 200
Page 428 Saneto. J Transl Genet Genom 2020;4:384-428 I http://dx.doi.org/10.20517/jtgg.2020.40
360. Zafeiriou DI, Augoustides-Savvopoulou P, Hass D, Smet J, Triantafyllou P, et al. Ethylmalonic encephalopathy: clinical and biochemical
observations. Neuropediatrics 2007;38:78-82.
361. Grings M, Seminotti B, Karunanidhi A, Ghaloul-Gonzalez L, Mohsen AW, et al. ETHE1 and MOCS1 deficiencies: disruption of
mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. Sci
Rep 2019;9:12651.
362. Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, et al. Diagnosis of “possible” mitochondrial disease: an existential crisis. J Med
Genet 2019;56:123-30.
363. Niyazov DM, Kahler SG, Frye FE. Primary mitochondrial disease and secondary mitochondrial dysfunction: importance of distinction
for diagnosis and treatment. Mol Syndrom 2016;7:122-137.
364. Wallace DC, Chalkia D. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. Cold Spring Harb
Perspect Biol 2013;5:a021220.
365. Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Available from: https://www.
cochranelibrary.com/cdsr/doi/10.1002/14651858.CD004426.pub3/abstract. [Last accessed on 21 Sep 2020]
366. Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H. Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain
2017;140:1-4.
367. Mendell JR, Al-Zaidy S, Shell R, Arnold WD, Rodino-Klapac LR, et al. Single dose gene-replacement therapy for spinal muscular
atrophy. New Engl J Med 2017;377:1713-22.
368. Chinnery PF. Mitochondrial replacement in the clinic. New Eng J Med 2020;382;1855-7.
369. Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial diseases: hope for the future. Cell 2020;181:168-88.