Lysosomal glycogen storage disease with normal acid maltase

@article{Danon1981LysosomalGS,
  title={Lysosomal glycogen storage disease with normal acid maltase},
  author={Moris J. Danon and S. J. Oh and Salvatore Dimauro and Jose R. Manaligod and Abraham B. Eastwood and Sakkubai Naidu and Louis H. Schliselfeld},
  journal={Neurology},
  year={1981},
  volume={31},
  pages={51 - 51}
}
Two unrelated 16-year-old boys had mental retardation, cardiomegaly, and proximal myopathy. One also had hepatomegaly. Histochemistry and electronmicroscopy of muscle biopsies showed lysosomal glycogen storage resembling acid maltase deficiency. Biochemical studies of skeletal muscle showed increased content of glycogen of normal structure; acid a-glucosidase activity in both urine and muscle was normal. Other enzymes of glycogen metabolism were also normal. The cause of this apparently… Expand
Lysosomal glycogen storage disease without acid maltase deficiency
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[Lysosomal glycogen storage disease without acid maltase deficiency].
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