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Mild Lesch–Nyhan Disease in a Boy with a Null Mutation in HPRT1: An Exception to the Known Genotype–Phenotype Correlation
Hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency results in a continuous spectrum of clinical phenotypes though all include overproduction of uric acid with hyperuricaemia, urate nephrolithiasis and gout. HPRT1 mutations that result in very low or no HPRT enzyme activities are genera...
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| 發表在: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Berlin Heidelberg
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4361920/ https://ncbi.nlm.nih.gov/pubmed/25366392 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_368 |
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