Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report

Prenat Diagn. 2010 Jan;30(1):89-90. doi: 10.1002/pd.2416.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Fetal Blood / chemistry*
  • Humans
  • Mucopolysaccharidosis IV / blood
  • Mucopolysaccharidosis IV / diagnosis*
  • N-Acetylgalactosamine-4-Sulfatase / blood*
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • N-Acetylgalactosamine-4-Sulfatase