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Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Lesch-Nyhan disease (LND) is a rare, X-linked recessive neurodevelopmental disorder caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGprt), an enzyme in the purine salvage pathway. HGprt has two functions; it recycles hypoxanthine and guanine. Which of these two functions is...
Tallennettuna:
| Julkaisussa: | J Inherit Metab Dis |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2015
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5903427/ https://ncbi.nlm.nih.gov/pubmed/26067813 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9869-x |
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