LESCH-NYHAN SYNDROME – late diagnosis of rare disease: clinical case
Background. Lesch-Nyhan syndrome is inherent X-linked recessive genetic disorder with decreased activity of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease is characterized by presence of the classical triad: hyperuricemia, neurological and behavioral changes. In the article we p...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
V. N. Karazin Kharkiv National University
2021-02-01
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| Col·lecció: | Journal of V. N. Karazin Kharkiv National University: Series Medicine |
| Matèries: | |
| Accés en línia: | https://periodicals.karazin.ua/medicine/article/view/16891 |
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