YamamuraTNozuKMiyoshiY, et al. An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis. BMC Nephrol. 2017;18(1):353. doi:10.1186/s12882-017-0774-4.
2.
GiglioSMontiniGTrepiccioneFGambaroGEmmaF.Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. J Nephrol. 2021;34(6):2073-2083. doi:10.1007/s40620-021-01032-y.
3.
PalmerBFKelepourisECleggDJ.Renal tubular acidosis and management strategies: a narrative review. Adv Ther. 2021;38(2):949-968. doi:10.1007/s12325-020-01587-5.
4.
BatlleDHaqueSK.Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012;27(10):3691-3704. doi:10.1093/ndt/gfs442.
5.
StehbergerPASchulzNFinbergKE, et al. Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis. J Am Soc Nephrol. 2003;14(12):3027-3038. doi:10.1097/01.asn.0000099375.74789.ab.
6.
ForgacM.Structure and properties of the vacuolar (H+)-ATPases. J Biol Chem. 1999;274(19):12951-12954. doi:10.1074/jbc.274.19.12951.
7.
MohebbiNWagnerCA.Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis. J Nephrol. 2018;31(4):511-522. doi:10.1007/s40620-017-0447-1.
