Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature
Author:
Publisher
Elsevier BV
Subject
Urology
Reference15 articles.
1. Lesch-Nyhan syndrome. Gene reviews;Pagon,2014
2. Nephrolithiasis related to inborn metabolic diseases;Cochat;Pediatr Nephrol,2010
3. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency;Torres;Metabolism,2007
4. Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant;Gasperini;Pediatr Nephrol,2010
5. 293 A>G point mutation presenting as neonatal acute renal failure;Wong;Pediatr Nephrol,2008
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2. Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients;Frontiers in Genetics;2022-04-26
3. Combination of S-adenosylmethionine and mouthguard for oral self-mutilation in Lesch-Nyhan syndrome;Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology;2021-07
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5. Movement Disorders and Renal Diseases;Movement Disorders Clinical Practice;2020-08-10
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