Загрузка...
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...
Сохранить в:
| Главные авторы: | , , , , , , , , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2010
|
| Предметы: | |
| Online-ссылка: | 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 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|