Prenatal diagnosis in glycogen storage diseases

Prenat Diagn. 2002 May;22(5):357-9. doi: 10.1002/pd.166.
No abstract available

Publication types

  • Review

MeSH terms

  • 1,4-alpha-Glucan Branching Enzyme / deficiency
  • 1,4-alpha-Glucan Branching Enzyme / genetics
  • 1,4-alpha-Glucan Branching Enzyme / metabolism
  • Adult
  • Female
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glucan 1,4-alpha-Glucosidase / genetics
  • Glucan 1,4-alpha-Glucosidase / metabolism
  • Glucose-6-Phosphatase / genetics
  • Glucose-6-Phosphatase / metabolism
  • Glycogen Debranching Enzyme System / deficiency
  • Glycogen Debranching Enzyme System / genetics
  • Glycogen Debranching Enzyme System / metabolism
  • Glycogen Storage Disease / classification
  • Glycogen Storage Disease / diagnosis*
  • Glycogen Storage Disease / enzymology
  • Glycogen Storage Disease Type I
  • Humans
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Glycogen Debranching Enzyme System
  • 1,4-alpha-Glucan Branching Enzyme
  • Glucose-6-Phosphatase
  • Glucan 1,4-alpha-Glucosidase