Current understanding of Lesch-Nyhan disease and potential therapeutic targets
| Autor: | Rosa J. Torres |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Dystonia
congenital hereditary and neonatal diseases and abnormalities business.industry Health Policy Choreoathetosis nutritional and metabolic diseases macromolecular substances Disease Action dystonia medicine.disease Bioinformatics 03 medical and health sciences 0302 clinical medicine Hypoxanthine-guanine phosphoribosyltransferase Lesch-Nyhan Disease 030220 oncology & carcinogenesis medicine Pharmacology (medical) Hyperuricemia medicine.symptom business Pharmacology Toxicology and Pharmaceutics (miscellaneous) 030217 neurology & neurosurgery |
| Zdroj: | Expert Opinion on Orphan Drugs. 7:349-361 |
| ISSN: | 2167-8707 |
| DOI: | 10.1080/21678707.2019.1652597 |
| Popis: | Introduction: Lesch–Nyhan disease (LND) is an inborn error of purine metabolism characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention d... |
| Databáze: | OpenAIRE |
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