Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

@article{Magoulas2012DiffuseRS,
  title={Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.},
  author={Pilar L. Magoulas and Ayman W El-Hattab and Angshumoy Roy and Deeksha S. Bali and Milton J. Finegold and William J. Craigen},
  journal={Human pathology},
  year={2012},
  volume={43 6},
  pages={
          943-51
        }
}
Glycogen storage disease type IV is a rare autosomal recessive disorder of glycogen metabolism caused by mutations in the GBE1 gene that encodes the 1,4-alpha-glucan-branching enzyme 1. Its clinical presentation is variable, with the most common form presenting in early childhood with primary hepatic involvement. Histologic manifestations in glycogen storage disease type IV typically consist of intracytoplasmic non-membrane-bound inclusions containing abnormally branched glycogen (polyglucosan… CONTINUE READING
BETA

Citations

Publications citing this paper.
SHOWING 1-10 OF 12 CITATIONS

Similar Papers

Loading similar papers…