Nitisinone causes acquired tyrosinosis in alkaptonuria
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12229
Abstract: For over two decades, nitisinone (NTBC) has been successfully used to manipulate the tyrosine degradation pathway and save the lives of many children with hereditary tyrosinaemia type 1. More recently, NTBC has been used to… read more here.
Keywords: causes acquired; acquired tyrosinosis; nitisinone causes; alkaptonuria ... See more keywords
A case report of pregnancy in untreated alkaptonuria – Focus on urinary tissue remodelling markers
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100766
Abstract: A 34-year old woman with alkaptonuria had an elective pregnancy, during which she collected urine samples over the duration of her pregnancy until parturition. She had been attending the National Alkaptonuria Centre from the age… read more here.
Keywords: urine creatinine; pregnancy; tissue remodelling; tissue ... See more keywords