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pro vyhledávání: '"Asmaa F. Abdel-aleem"'
Autor:
Maha S. Zaki, Magda F. Mohamed, Ekram Fateen, Asmaa F. Abdel-aleem, Heba A. Hassan, Mona L. Essawi, M. A. Badawy
Publikováno v:
Open Access Macedonian Journal of Medical Sciences, Vol 8, Iss A (2020)
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, progressive neuro-visceraldisease caused by biallelic mutations in either NPC1gene (95% of cases) or NPC2 gene. AIM: This caseseries study aimed at the molecular analysis o