A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

by Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh, Majid Yavarian
Published 2020-06-01

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

by Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Published 2019-10-01