Evaluating the aortic stenosis phenotype before and after the effect of homogentisic acid lowering therapy: Analysis of a large cohort of eighty-one alkaptonuria patients.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.05.007
Abstract: AIMS A large alkaptonuria (AKU) cohort was studied to better characterise the poorly understood phenotype of aortic stenosis of rare disease AKU. METHODS AND RESULTS Eighty-one patients attended the National Alkaptonuria Centre (NAC) between 2007… read more here.
Keywords: analysis; aortic stenosis; nitisinone; cohort ... See more keywords