Pompe's disease.

@article{Ploeg2008PompesD,
  title={Pompe's disease.},
  author={Ans T van der Ploeg and Arnold J. J. Reuser},
  journal={Lancet},
  year={2008},
  volume={372 9646},
  pages={1342-53}
}
Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid alpha-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems. The clinical spectrum is continuous and broad. First symptoms can present in… CONTINUE READING
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