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ApreciseKUre: an approach of Precision Medicine in a Rare Disease

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 implementation of...

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Bibliografiske detaljer
Udgivet i:BMC Med Inform Decis Mak
Main Authors: Spiga, Ottavia, Cicaloni, Vittoria, Bernini, Andrea, Zatkova, Andrea, Santucci, Annalisa
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391600/
https://ncbi.nlm.nih.gov/pubmed/28410607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12911-017-0438-0
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