A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
نویسندگان
چکیده
منابع مشابه
Clinical development of nitisinone for alkaptonuria (developakure) - a rare disease clinical trials design
Alkaptonuria (AKU) is an orphan inherited homogentisate dioxygenase enzyme deficiency resulting in accumulation of homogentisic acid (HGA). HGA is converted to a black pigment polymer known as ochronosis that causes tissue damage affecting many tissues including joints and heart, with significant poor quality of life. The DevelopAKUre project is a Europe-wide collaboration to study the efficacy...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2011
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.04.016