Article
Clinical presentation of 13 children with alkaptonuria.
Journal of inherited metabolic disease - 1 Sept 2023
Kujawa Mariusz J, Świętoń Dominik, Wierzba Jolanta, Grzywińska Małgorzata, Budziło Oskar, Limanówka Monika, Pierzynowska Karolina, Gaffke Lidia, Grabowski Łukasz, Cyske Zuzanna, Rintz Estera, Rąbalski Łukasz, Kosiński Maciej, Węgrzyn Grzegorz, Mański Arkadiusz, Anikiej-Wiczenbach Paulina, Ranganath Lakshminarayan, Piskunowicz Maciej
Abstract excerpt
Until now, only a few studies have focused on the early onset of symptoms of alkaptonuria (AKU) in the pediatric population. This prospective, longitudinal study is a comprehensive approach to the assessment of children with recognized AKU during childhood. The study includes data from 32 visits of 13 patients (five males, eight females; age 4-17 years) with AKU. A clinical evaluation was performed with...
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