نتایج جستجو برای: seipin

تعداد نتایج: 156  

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 2015

Mohammad Ghofrani, Mohammad Keramatipour, Mohammad Reza Alaei, Mohsen Taghizadeh, Saeed Talebi,

Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...

2015
Pengfei Xu Huan Wang Abudurexiti Kayoumu Mengyu Wang Wei Huang George Liu

BACKGROUND N-3 polyunsaturated fatty acids (n-3 PUFAs), in particular eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), have been shown to effectively improve hepatic steatosis and insulin resistance caused by obesity. Lipodystrophy could also develop insulin resistance and hepatic steatosis. However, the effect of supplemental DHA/EPA to hepatic steatosis caused by lipodystrophy is u...

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