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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Detalles Bibliográficos
Autores principales: Spiga, Ottavia, Cicaloni, Vittoria, Bernini, Andrea, Zatkova, Andrea, Santucci, Annalisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Database
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391600/
https://www.ncbi.nlm.nih.gov/pubmed/28410607
http://dx.doi.org/10.1186/s12911-017-0438-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391600/
https://www.ncbi.nlm.nih.gov/pubmed/28410607
http://dx.doi.org/10.1186/s12911-017-0438-0

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