Disease severity and clinical outcome in phosphosglucomutase deficiency

J Inherit Metab Dis. 2015 Mar;38(2):207-9. doi: 10.1007/s10545-014-9769-5.
No abstract available

Publication types

  • Editorial
  • Research Support, N.I.H., Extramural
  • Comment

MeSH terms

  • Animals
  • Glycogen Storage Disease / genetics*
  • Humans
  • Mutation, Missense*
  • Phosphoglucomutase / genetics*

Substances

  • PGM1 protein, human
  • Phosphoglucomutase

Supplementary concepts

  • Glycogen Storage Disease XIV