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Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-...
March 1, 2015
Eur J Hum Genet
Martina Nemethova 1, Jan Radvanszky 1, Ludevit Kadasi 1 2, David B Ascher 3, Douglas E V Pires 3, Tom L Blundell 3, Berardino Porfirio 4, Alessandro Mannoni 5, Annalisa Santucci 6, Lia Milucci 6, Silvia Sestini 7, Gianfranco Biolcati 8, Fiammetta Sorge 8, Caterina Aurizi 8, Robert Aquaron 9, Mohammed Alsbou 10, Charles Marques Lourenço 11, Kanakasabapathi Ramadevi 12, Lakshminarayan R Ranganath 13, James A Gallagher 14, Christa van Kan 15, Anthony K Hall 16, Birgitta Olsson 17, Nicolas Sireau 18, Hana Ayoob 18, Oliver G Timmis 18, Kim-Hanh Le Quan Sang 19, Federica Genovese 20, Richard Imrich 21, Jozef Rovensky 21, Rangan Srinivasaraghavan 22, Shruthi K Bharadwaj 23, Ronen Spiegel 24, Andrea Zatkova 1