2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT

Autor: Deng, Li a, Yang, Min a, Fründ, Stefan b, Wessel, Torsten b, De Abreu, Ronney A c, Tischfield, Jay A a, Sahota, Amrik a, 1
Zdroj: In Molecular Genetics and Metabolism March 2001 72(3):260-264
Databáze: ScienceDirect