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Autor:
Anoud Kendi, Nuha Al Zaabi, Osama Y. Al-Dirbashi, Nobuyuki Shimozawa, Shigeo Takashima, Fatma Al-Jasmi
Publikováno v:
Brain and Development. 41:57-65
Background Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this clinical spectrum. Here we di