Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia

Clin Chem. 2002 Jun;48(6 Pt 1):934-6.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Clinical Enzyme Tests
  • Congenital Disorders of Glycosylation / diagnosis*
  • Glycosylation
  • Humans
  • Infant
  • Leukocytes / enzymology*
  • Middle Aged
  • Mutation
  • Phosphotransferases (Phosphomutases) / blood*
  • Phosphotransferases (Phosphomutases) / genetics
  • Reference Values

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase