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pro vyhledávání: '"Zahra Pahlevani Kani"'
Autor:
Saeed R. Ghaffari, Maryam Rafati, Mahdi Shadnoush, Shokooh Pourbabaee, Mohammad Aghighi, Siamak Mirab Samiee, Jamshid Kermanchi, Mohammad R. Alaei, Shadab Salehpour, Davoud Amirkashani, Aria Setoodeh, Peymaneh Sarkhail, Reza Shervin Badv, Majid Aminzadeh, Siamak Shiva, Peyman Eshraghi, Hossein Moravej, Mahin Hashemipour, Noushin Rostampour, َAmir Ali Hamidieh, Bibi Shahin Shamsian, Sedigheh Shams, Daniel Zamanfar, Ayoub Ebrahimi, Ali Otadi, Seyedeh Zahra Tara, Zeinab Barati, Laya Fakhri, Azadeh Hoseini, Hosna Amiri, Somayeh Ramandi, Niusha Mostofinezhad, Zahra Pahlevani Kani, Elham Mohammadyari, Mahsa Khosravi, Masoome Saadati, Fatemeh Hoseininasab, Hamid Reza Khorram Khorshid, Younes Modaberisaber
Publikováno v:
Human mutationREFERENCES. 43(4)
Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of