Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease

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. A secondary form of amyloidosis was identi...

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Veröffentlicht in:FASEB J
Hauptverfasser: Cicaloni, Vittoria, Spiga, Ottavia, Dimitri, Giovanna Maria, Maiocchi, Rebecca, Millucci, Lia, Giustarini, Daniela, Bernardini, Giulia, Bernini, Andrea, Marzocchi, Barbara, Braconi, Daniela, Santucci, Annalisa
Format: Artigo
Sprache:Inglês
Veröffentlicht: Federation of American Societies for Experimental Biology 2019
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6902683/
https://ncbi.nlm.nih.gov/pubmed/31462106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201901529R
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