Muscle glycogenosis due to phosphoglucomutase 1 deficiency

N Engl J Med. 2009 Jul 23;361(4):425-7. doi: 10.1056/NEJMc0901158.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ammonia / blood
  • Exercise / physiology
  • Glycogen Storage Disease* / diagnosis
  • Glycogen Storage Disease* / genetics
  • Humans
  • Lactic Acid / blood
  • Male
  • Muscle, Skeletal / enzymology*
  • Muscle, Skeletal / metabolism
  • Mutation
  • Phosphoglucomutase / deficiency*
  • Phosphoglucomutase / genetics

Substances

  • Lactic Acid
  • Ammonia
  • Phosphoglucomutase