Lianlian Yang Hui Guo
10.3389/fped.2022.1080486
Front Pediatr
2022 Dec 19;10:1080486.
hprt1 gene mutation lesch-nyhan disease congenital metabolic diseases genetic testing hyperuricemia
CC BY
https://pubmed.ncbi.nlm.nih.gov/36601030/
Case Reports
PMC9806254
36601030
Case report: Early-onset renal failure as presenting sign of Lesch-Nyhan disease in infancy
2022