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Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis
We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high...
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| Vydáno v: | J Clin Invest |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
1973
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC333025/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4353774/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107409 |
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