Article
Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.
European journal of human genetics : EJHG - 1 Jan 2016
Nemethova Martina, Radvanszky Jan, Kadasi Ludevit, Ascher David B, Pires Douglas E V, Blundell Tom L, Porfirio Berardino, Mannoni Alessandro, Santucci Annalisa, Milucci Lia, Sestini Silvia, Biolcati Gianfranco, Sorge Fiammetta, Aurizi Caterina, Aquaron Robert, Alsbou Mohammed, Lourenço Charles Marques, Ramadevi Kanakasabapathi, Ranganath Lakshminarayan R, Gallagher James A, van Kan Christa, Hall Anthony K, Olsson Birgitta, Sireau Nicolas, Ayoob Hana, Timmis Oliver G, Sang Kim-Hanh Le Quan, Genovese Federica, Imrich Richard, Rovensky Jozef, Srinivasaraghavan Rangan, Bharadwaj Shruthi K, Spiegel Ronen, Zatkova Andrea
Abstract excerpt
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-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the first study in DevelopAKUre,...
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