Detection of Heterozygous Carriers in Glycogen Storage Disease of the Liver (von Gierke's Disease)

@article{Hsia1959DetectionOH,
  title={Detection of Heterozygous Carriers in Glycogen Storage Disease of the Liver (von Gierke's Disease)},
  author={David Yi-Yung Hsia and EVA GAWRONSKA KOT},
  journal={Nature},
  year={1959},
  volume={183},
  pages={1331-1332}
}
IN 1929, von Gierke1 described a rare congenital disorder of carbohydrate metabolism characterized by excessive deposition of glycogen in various organs of the body. Cori and Cori2 have shown that there is a deficiency of glucose-6-phosphatase activity in the liver in such patients. The occurrence of this condition in siblings3 and among the offsprings of consanguineous matings4, together with its equal distribution in both sexes, suggests that it is probably transmitted by a single autosomal… CONTINUE READING
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