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Severe Gouty Arthritis and Mild Neurologic Symptoms Due to F199C, a Newly Identified Variant of the Hypoxanthine Guanine Phosphoribosyltransferase
A deficiency in hypoxanthine guanine phosphoribosyltransferase (HPRT) activity leads to overproduction of uric acid. According to the degree of enzymatic deficiency, a large spectrum of neurologic features can also be observed, ranging from mild or no neurologic involvement to complete Lesch-Nyhan d...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2925154/ https://ncbi.nlm.nih.gov/pubmed/19565499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/art.24617 |
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