Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

@article{Vorgerd1998AdultonsetGS,
  title={Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients},
  author={Matthias Vorgerd and Barbara Burwinkel and Heinz Reichmann and J H Malin and Manfred W Kilimann},
  journal={Neurogenetics},
  year={1998},
  volume={1},
  pages={205-211}
}
Glycogen storage disease type II (GSDII, Pompe's disease) is an autosomal recessive inherited deficiency of lysosomal α-glucosidase (GAA). Clinical as well as biochemical and allelic heterogeneity have been described in GSDII. We identified mutations within the GAA gene in seven unrelated German patients, six with adult- and one with juvenile-onset GSDII… CONTINUE READING