Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12887-018-1197-5.pdf
Reference26 articles.
1. Lesch M. Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561–70.
2. Sikora P, Pijanowska M, Majewski M, Bienias B, Borzecka H, Zajczkowska M. Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. Pediatr Nephrol. 2006;21:1045–7.
3. Jinnah HA, De GL, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000;463:309–26.
4. Nyhan WL. Lesch-Nyhan disease. J Hist Neurosci. 2005;14:1–10.
5. Torres RJ, Puig JG. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007;2:48.
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