Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S
Pediatr Nephrol. 2010; 25(6):1173-6.
PMID: 20101413
DOI: 10.1007/s00467-009-1430-4.
Newman J, Schultz B, Noel K
Plant Physiol. 1992; 99(2):401-8.
PMID: 16668898
PMC: 1080475.
DOI: 10.1104/pp.99.2.401.
Chen C, Eckert R
Plant Physiol. 1977; 59(3):443-7.
PMID: 16659870
PMC: 542421.
DOI: 10.1104/pp.59.3.443.
ODonnell A, Tiong S, Nash D, CLARK D
Genetics. 2000; 154(3):1239-53.
PMID: 10757766
PMC: 1460979.
DOI: 10.1093/genetics/154.3.1239.
Doppler W, Hirsch-Kauffmann M, Schabel F, Schweiger M
Hum Genet. 1981; 57(4):404-10.
PMID: 7286981
DOI: 10.1007/BF00281694.
The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.
Takeuchi F, Hanaoka F, Yano E, Yamada M, Horiuchi Y, Akaoka I
Hum Genet. 1981; 58(3):322-30.
PMID: 6276287
DOI: 10.1007/BF00294932.
Basis for the control of purine biosynthesis by purine ribonucleotides.
Itakura M, Sabina R, Heald P, Holmes E
J Clin Invest. 1981; 67(4):994-1002.
PMID: 6162862
PMC: 370657.
DOI: 10.1172/jci110150.
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
Fujimori S, Akaoka I, Sakamoto K, Yamanaka H, Nishioka K, Kamatani N
Hum Genet. 1985; 71(2):171-6.
PMID: 3876264
DOI: 10.1007/BF00283377.
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.
Kamatani N, Terai C, Kuroshima S, Nishioka K, MIKANAGI K
Hum Genet. 1987; 75(2):163-8.
PMID: 3817810
DOI: 10.1007/BF00591080.
Are proteins made of modules?.
Traut T
Mol Cell Biochem. 1986; 70(1):3-10.
PMID: 3520292
DOI: 10.1007/BF00233799.
Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis.
Kamatani N, Kuroshima S, Yamanaka H, Nakashe S, Take H, Hakoda M
Hum Genet. 1990; 85(5):500-4.
PMID: 2227934
DOI: 10.1007/BF00194224.
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.
Fox I, Dwosh I, Marchant P, Lacroix S, Moore M, Omura S
J Clin Invest. 1975; 56(5):1239-49.
PMID: 1184748
PMC: 301987.
DOI: 10.1172/JCI108200.
A purine auxotroph deficient in phosphoribosylpyrophosphate amidotransferase and phosphoribosylpyrophosphate aminotransferase activities with normal activity of ribose-5-phosphate aminotransferase.
Holmes E, King G, Leyva A, Singer S
Proc Natl Acad Sci U S A. 1976; 73(7):2458-61.
PMID: 1065900
PMC: 430607.
DOI: 10.1073/pnas.73.7.2458.
Escherichia coli mutants deficient in guanine-xanthine phosphoribosyltransferase.
Holden J, HARRIMAN P, Wall J
J Bacteriol. 1976; 126(3):1141-8.
PMID: 820683
PMC: 233137.
DOI: 10.1128/jb.126.3.1141-1148.1976.
Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.
Yen R, ADAMS W, Lazar C, Becker M
Proc Natl Acad Sci U S A. 1978; 75(1):482-5.
PMID: 203941
PMC: 411274.
DOI: 10.1073/pnas.75.1.482.
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Becker M
J Clin Invest. 1976; 57(2):308-18.
PMID: 176178
PMC: 436655.
DOI: 10.1172/JCI108282.
