Cytokines in treated and untreated Pompe patients

نویسندگان

  • N Karabul
  • S Gökce
  • M Kirchner
  • W Mannhardt
  • E Mengel
چکیده

Introduction Glycogen storage disease type II (Pompe disease or acid maltase deficiency) is an autosomal recessive metabolic disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Accumulation of glycogen in the lysosomes damages muscle cells throughout the body. In response to that damage, we hypothesized that cytokines (a family of proteins that mediate innate and adaptive immunity) would be elevated. We investigated 30 (15 female, 15 male) Pompe patients before ERT start and 1 year after ERT and used high-resolution ELISA.

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عنوان ژورنال:

دوره 14  شماره 

صفحات  -

تاریخ انتشار 2013