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Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21


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Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, et al. VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014; 35(8):983–9. DiodatoD MelchiondaL HaackTB DallabonaC BaruffiniE DonniniC VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies Hum Mutat 2014 35 8 983 9 Search in Google Scholar

Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, et al. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyltRNA-synthetase (TARS2)-related disorder. Genet Med. 2023; 25(11):100938. AccogliA LinSJ SeverinoM KimSH HuangK RoccaC Clinical, neuroradiological, and molecular characterization of mitochondrial threonyltRNA-synthetase (TARS2)-related disorder Genet Med 2023 25 11 100938 Search in Google Scholar

He P, Wang Q, Hong X, Yuan H. Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review. Am J Med Genet A. 2023; 191(1):70–6. HeP WangQ HongX YuanH Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review Am J Med Genet A 2023 191 1 70 6 Search in Google Scholar

Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, et al. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Hum Mol Genet. 2022; 31(4):523–34. ZhengWQ PedersenSV ThompsonK BellacchioE FrenchCE MunroB Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease Hum Mol Genet 2022 31 4 523 34 Search in Google Scholar

Li X, Peng B, Hou C, Li J, Zeng Y, Wu W, Liao Y, et al. Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. BMC Med Genet. 2020; 21(1):217. LiX PengB HouC LiJ ZengY WuW LiaoY Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report BMC Med Genet 2020 21 1 217 Search in Google Scholar

Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, et al. Renal Phenotype in Mitochondrial Diseases: A Multicenter Study. Kidney Dis (Basel). 2022; 8(2):148–59. ParasyriM BrandströmP UusimaaJ OstergaardE HikmatO IsohanniP Renal Phenotype in Mitochondrial Diseases: A Multicenter Study Kidney Dis (Basel) 2022 8 2 148 59 Search in Google Scholar

Finsterer J, Scorza FA. Renal manifestations of primary mitochondrial disorders. Biomed Rep. 2017; 6(5):487–94. FinstererJ ScorzaFA Renal manifestations of primary mitochondrial disorders Biomed Rep 2017 6 5 487 94 Search in Google Scholar

O’Toole JF. Renal manifestations of genetic mitochondrial disease. Int J Nephrol Renovasc Dis. 2014; 7:57–67. O’TooleJF Renal manifestations of genetic mitochondrial disease Int J Nephrol Renovasc Dis 2014 7 57 67 Search in Google Scholar

Rahman S, Hall AM. Mitochondrial disease: an important cause of end-stage renal failure. Pediatr Nephrol. 2013; 28(3):357–61. RahmanS HallAM Mitochondrial disease: an important cause of end-stage renal failure Pediatr Nephrol 2013 28 3 357 61 Search in Google Scholar

Govers LP, Toka HR, Hariri A, Walsh SB, Bockenhauer D. Mitochondrial DNA mutations in renal disease: an overview. Pediatr Nephrol. 2021; 36(1):9–17. GoversLP TokaHR HaririA WalshSB BockenhauerD Mitochondrial DNA mutations in renal disease: an overview Pediatr Nephrol 2021 36 1 9 17 Search in Google Scholar

Belostotsky R, Ben-Shalom E, Rinat C, et al. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. Am J Hum Genet. 2011; 88:193–200. BelostotskyR Ben-ShalomE RinatC Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome Am J Hum Genet 2011 88 193 200 Search in Google Scholar

D’Aco KE, Manno M, Clarke C, Ganesh J, Meyers KE, Sondheimer N. Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood. Pediatr Nephrol. 2013; 28(3):515–9. D’AcoKE MannoM ClarkeC GaneshJ MeyersKE SondheimerN Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood Pediatr Nephrol 2013 28 3 515 9 Search in Google Scholar

Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Endocrine Disorders in Primary Mitochondrial Disease. J Endocr Soc. 2018; 2(4):361–73. Al-GadiIS HaasRH FalkMJ GoldsteinA McCormackSE Endocrine Disorders in Primary Mitochondrial Disease J Endocr Soc 2018 2 4 361 73 Search in Google Scholar

Ng YS, Lim AZ, Panagiotou G, Turnbull DM, Walker M. Endocrine Manifestations and New Developments in Mitochondrial Disease. Endocr Rev. 2022; 43(3):583–609. NgYS LimAZ PanagiotouG TurnbullDM WalkerM Endocrine Manifestations and New Developments in Mitochondrial Disease Endocr Rev 2022 43 3 583 609 Search in Google Scholar

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