Italian experience with Lesch-Nyhan patients and animal models of the disease
Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome. LND patients exhibit hyperuricemia with stones due to unrecycled purine accumulation and increased s...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2017-12-01
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| Series: | The EuroBiotech Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.24190/ISSN2564-615X/2017/S2.06 |