Multiple phenotypes in phosphoglucomutase 1 deficiency

N Engl J Med. 2014 May 22;370(21):2051-2. doi: 10.1056/NEJMc1403446.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Glucosephosphates / genetics*
  • Glycogen Storage Disease / genetics*
  • Humans
  • Male
  • Phenotype*
  • Phosphoglucomutase / genetics*

Substances

  • Glucosephosphates
  • Phosphoglucomutase