A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy.

@article{Nase1995ANV,
  title={A new variant of type IV glycogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In vivo detection by heart muscle biopsy.},
  author={S Nase and Klaus Peter Kunze and Martin Sigmund and J. M. Schr{\"o}der and Yong Shin and Peter Hanrath},
  journal={European heart journal},
  year={1995},
  volume={16 11},
  pages={1698-704}
}
Type IV glycogenosis (polyglucosan body disease) is a rare congenital autosomal recessive inherited disorder, caused by lack of the branching enzyme (amylo-1,4-1,6 transglucosidase). This deficiency leads to storage of abnormal glycogen (polyglucosan bodies) in the liver and other tissues. The clinical onset of the disease is insidious with non-specific gastrointestinal symptoms followed by progressive hepatic failure. Usually patients die due to hepatic cirrhosis within 4 years. Sometimes… CONTINUE READING
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