A novel heterozygous mutation in the ATP6V0A4 gene encoding the V-ATPase a4 subunit in an adult patient with incomplete distal renal tubular acidosis

Mostrar otras versiones (1)

A 40-year-old Japanese man who had a medical history of hypokalemic periodic paralysis 4 months prior was hospitalized to undergo a cholecystectomy. Hypokalemia, nephrocalcinosis and alkaluria suggesting distal renal tubular acidosis (dRTA) were detected, but metabolic acidosis was not evident. An a...

Descripción completa

Detalles Bibliográficos
Autores principales: Imai, Eri, Kaneko, Shuzo, Mori, Takayasu, Okado, Tomokazu, Uchida, Shinichi, Tsukamoto, Yusuke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Familial Nephropathies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4886904/
https://www.ncbi.nlm.nih.gov/pubmed/27274828
http://dx.doi.org/10.1093/ckj/sfw008
Mostrar todas las versiones(2)

Ejemplares similares