9. Harambat J, Farque S, Acquaviva C. Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. Kidney Int. 2010;77(5):443-449.
10. Bergstralh EJ, Monico CG, Lieske JC. Transplantation outcomes in primary hyperoxaluria. Am J Transplant. 2010;10(11):2493-2501.
11. Rare Clinical Diseases Research Network. Diseases in depth: adenine phosphoribosyltransferase (APRT) deficiency. www.rarediseasesnetwork.org/RKSC/professional/APRT/index.htm. Accessed September 29, 2014.
12. Edvardsson V, Palsson R. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria. In: Moriwaki Y, ed. Genetic Errors Associated with Purine and Pyrimidine Metabolism in Humans: Diagnosis and Treatment. Kerala, India: Research Signpost; 2006:79-93.
13. Edvardsson V, Palsson R, Olafsson I, et al. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis. 2001;38(3):473-480.
14. Stapleton FB. Childhood stones. Endocrinol Metab Clin North Am. 2002;31(4):1001-1015.
15. Mattoo A, Goldfarb DS. Cystinuria. Semin Nephrol. 2008;28(2):181-191.
16. Goldfarb DS, Coe FL, Asplin JR. Urinary cystine excretion and capacity in patients with cystinuria. Kidney Int. 2006;69(6):1041-1047.
17. Perazella MA, Buller GK. Successful treatment of cystinuria with captopril. Am J Kidney Dis. 1993;21(5):504-507.
18. Devuyst O, Thakker RV. Dent’s disease. Orphanet J Rare Dis. 2010;5:28.
19. Ludwig M, Utsch B, Monnens LA. Recent advances in understanding the clinical and genetic heterogeneity of Dent’s disease. Nephrol Dial Transplant. 2006;21(10):2708-2717.