Novel mutations in the PHKB gene in an iranian girl with severe liver involvement and glycogen storage disease type IX: a case report and review of literature

by Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi, Alireza Shojazadeh
Published 2021-04-01

Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature

by Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Alireza Alborzi, Alireza Shojazadeh
Published 2021-01-01

Author Correction: Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

by Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi
Published 2021-07-01

Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

by Zahra Beyzaei, Fatih Ezgu, Bita Geramizadeh, Mohammad Hadi Imanieh, Mahmood Haghighat, Seyed Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Amirreza Jassbi, Marjan Mahboubifar, Alireza Alborzi
Published 2021-03-01

Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified D...

by Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Published 2020-10-01