Genetic Contributors to Kidney Stones in Children
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-07594-0_3
Reference50 articles.
1. Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21:679–88. [PubMed: 20150536]
2. Edvardsson V, Palsson R, Olafsson I, Hjaltadottir G, Laxdal T. Clinical features and genotype of adenine phosphoribosyltransferase deficiency in Iceland. Am J Kidney Dis. 2001;38:473–80. [PubMed: 11532677]
3. Harambat J, Bollee G, Daudon M, Ceballos-Picot I, Bensman A. Adenine phosphoribosyltransferase deficiency in children. Pediatr Nephrol. 2012;27:571–9. [PubMed: 22212387]
4. Edvardsson VO, Goldfarb DS, Lieske JC, et al. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol. 2013;28(10):1923–42. https://doi.org/10.1007/s00467-012-2329-z.
5. Edvardsson VO, Runolfsdottir HL, Thorsteinsdottir UA, et al. Comparison of the effect of allopurinol and febuxostat on urinary 2,8-dihydroxyadenine excretion in patients with adenine phosphoribosyltransferase deficiency (APRTd): a clinical trial. Eur J Intern Med. 2018;48:75–9. https://doi.org/10.1016/j.ejim.2017.10.007.
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