Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II

Prenat Diagn. 2004 Mar;24(3):231-2. doi: 10.1002/pd.807.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aspartic Acid / genetics
  • Female
  • Glutamic Acid / genetics
  • Glycogen / metabolism*
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / metabolism
  • Glycogen Storage Disease Type II / pathology
  • Homozygote*
  • Humans
  • Lysosomes / enzymology
  • Mutation*
  • Pregnancy
  • Pregnancy Trimester, Second
  • alpha-Glucosidases / genetics*

Substances

  • Aspartic Acid
  • Glutamic Acid
  • Glycogen
  • alpha-Glucosidases