Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report

por Zekušić, Marija, Škaričić, Ana, Fumić, Ksenija, Rogić, Dunja, Žigman, Tamara, Petković Ramadža, Danijela, Vukojević, Nenad, Rüfenacht, Véronique, Uroić, Valentina, Barić, Ivo
Publicado 2018

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy

por Maver, Aleš, Žigman, Tamara, Rangrez, Ashraf Yusuf, Ćorić, Marijana, Homolak, Jan, Šarić, Dalibor, Škifić, Iva, Udovičić, Mario, Zekušić, Marija, Saleem, Umber, Laufer, Sandra D., Hansen, Arne, Frey, Norbert, Barić, Ivo, Peterlin, Borut
Publicado 2022