NGLY1 deficiency: Novel variants and literature review

Autor: Kariminejad, Ariana, Shakiba, Marjan, Shams, Mehrvash, Namiranian, Parva, Eghbali, Maryam, Talebi, Said, Makvand, Mina, Jaeken, Jaak, Najmabadi, Hossein, Hennekam, Raoul C.
Zdroj: In European Journal of Medical Genetics March 2021 64(3)
Databáze: ScienceDirect