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Disease: Glycogen storage disease type 1D

  • A new microtechnique for the analysis of the human hepatic microsomal glucose-6-phosphatase system
  • Fetal lung development in rats with a glycogen storage disorder
  • Historical highlights and unsolved problems in glycogen storage disease type 1
  • Identification, purification and genetic deficiencies of the glucose-6-phosphatase system transport proteins
  • Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c
  • Ontogeny of the murine glucose-6-phosphatase system
  • The gene for glycogen-storage disease type 1b maps to chromosome 11q23
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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