1. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis;Simmonds,1989
2. N. Kamatani, M. Hadoka, S. Otsuka, H. Yoshikawa, S. Kashiwazaki, Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients, J Clin Invest ((in press)).
3. Common characteristics of mutant adenine phosphoribosyltransferase from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies;Fujimori;Hum Genet,1985
4. Identification of a single missense mutation in the adenine phosphoribosyltransferase gene from five Icelandic patients and a British patient;Chen;Am J Hum Genet,1991
5. Differentiation of uric acid from dihydroxyadenine stones;Maddocks;Lancet,1987