Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.07.011
Abstract: QUESTION Does Nitisinone prevent the clinical progression of the Alkaptonuria? FINDINGS In this observational study on 39 patients, 2 mg of daily nitisinone inhibited ochronosis and significantly slowed the progression of AKU over a three-year period.… read more here.
Keywords: aku; nitisinone; group; progression alkaptonuria ... See more keywords
SAT0620 Further evidences of secondary amyloidosis in alkaptonuria
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2018-eular.4645
Abstract: Background Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism due to a deficient activity of homogentisate 1,2-dioxygenase. Patients suffer from a severe arthropathy. Evidence was provided on the presence of a secondary serum amyloid… read more here.
Keywords: amyloid; microscopy; analysis; aku patients ... See more keywords