Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.
Cicaloni V, Spiga O, Dimitri GM, Maiocchi R, Millucci L, Giustarini D, Bernardini G, Bernini A, Marzocchi B, Braconi D, Santucci A.
Cicaloni V, et al. Among authors: santucci a.
FASEB J. 2019 Nov;33(11):12696-12703. doi: 10.1096/fj.201901529R. Epub 2019 Aug 28.
FASEB J. 2019.
PMID: 31462106
Free PMC article.
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homogentisate 1,2-dioxygenasegene and consequent accumulation of homogentisic acid (HGA), causing a significant protein oxidation. ...M., M …
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homoge …