A Case of Chronic Kidney Disease with Pulmonary Hypertension, Hyperuricemia, Immunodeficiency and Other Extrarenal Findings: Answers
Overview
Overview
Authors
Affiliations
Affiliations
Soon will be listed here.
Citing Articles
Yang F, Wang D, Zhang X, Fan H, Zheng Y, Xiao Z Front Cardiovasc Med. 2023; 9:1058569.
PMID: 36698945 PMC: 9868236. DOI: 10.3389/fcvm.2022.1058569.
The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.
Del Greco C, Antonellis A Genes (Basel). 2022; 13(12).
PMID: 36553587 PMC: 9777667. DOI: 10.3390/genes13122319.
References
1.
Bhargava P, Schnellmann R
. Mitochondrial energetics in the kidney. Nat Rev Nephrol. 2017; 13(10):629-646.
PMC: 5965678.
DOI: 10.1038/nrneph.2017.107.
View
2.
Govers L, Toka H, Hariri A, Walsh S, Bockenhauer D
. Mitochondrial DNA mutations in renal disease: an overview. Pediatr Nephrol. 2020; 36(1):9-17.
PMC: 7701126.
DOI: 10.1007/s00467-019-04404-6.
View
3.
Scaglia F, Vogel H, Hawkins E, Vladutiu G, Liu L, Wong L
. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A. 2003; 123A(2):172-8.
DOI: 10.1002/ajmg.a.20315.
View
4.
Becher M, Wills M, Noll W, Hurko O, Price D
. Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion. Hum Pathol. 1999; 30(5):577-81.
DOI: 10.1016/s0046-8177(99)90204-6.
View
5.
Ozaltin F
. Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies. Pediatr Nephrol. 2013; 29(6):961-9.
DOI: 10.1007/s00467-013-2482-z.
View