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Late diagnosis of Lesch-Nyhan disease variant
A 30-year-old man was referred for investigation and management of hyperuricaemia. History included recurrent nephrolithiasis and chronic gout with poor response to medical management. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) enzyme activity was investigated and found to be deficient c...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMJ Publishing Group
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3863095/ https://ncbi.nlm.nih.gov/pubmed/24326440 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-201997 |
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