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Attenuated variants of Lesch-Nyhan disease
Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and...
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2010
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| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2842514/ https://ncbi.nlm.nih.gov/pubmed/20176575 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq013 |
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