ApreciseKUre: an approach of Precision Medicine in a Rare Disease

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...

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Podrobná bibliografie
Hlavní autoři: Ottavia Spiga, Vittoria Cicaloni, Andrea Bernini, Andrea Zatkova, Annalisa Santucci
Médium: Článek
Jazyk:English
Vydáno: BMC 2017-04-01
Edice:BMC Medical Informatics and Decision Making
Témata:
Alkaptonuria
Rare disease
Precision Medicine
Database
Data analysis
Biomarkers
On-line přístup:http://link.springer.com/article/10.1186/s12911-017-0438-0

Internet

http://link.springer.com/article/10.1186/s12911-017-0438-0

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