Article
[The first case of adenine phosphoribosyltransferase deficiency with APRT Q0 (M1V) mutation in Japan].
Hinyokika kiyo. Acta urologica Japonica - 1 Jan 2011
Ikeda Hirokazu, Watanabe Tsuneki, Fujimoto Yoko, Yamamoto Shouhei, Hosaki Ichiro, Isoyama Keiichi, Kawano Shinya, Chiba Masahiro
Abstract excerpt
Adenine phosphoribosyltransferase (APRT) deficiency is an enzyme deficiency associated with purine metabolism, a hereditary disease that causes recurrent 2, 8-DHA stone formation due to a complete or partial APRT defect and slowly damages the renal function. Since APRT deficiency can be treated to prevent its progression to renal insufficiency, it is important to detect APRT gene mutations and make a definite...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.