ApreciseKUre: an approach of Precision Medicine in a Rare Disease
Abstract Background Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Main body of the abstract Our objective is the implementat...
| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
BMC
2017-04-01
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| coleção: | BMC Medical Informatics and Decision Making |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s12911-017-0438-0 |