Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

Mol Genet Metab. 2006 Apr;87(4):379. doi: 10.1016/j.ymgme.2005.10.001. Epub 2005 Dec 15.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Blood Specimen Collection
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics
  • Fatal Outcome
  • Female
  • Genetic Counseling
  • Heterozygote
  • Humans
  • Infant
  • Male
  • Phosphotransferases (Phosphomutases) / deficiency
  • Phosphotransferases (Phosphomutases) / genetics*
  • Prenatal Diagnosis*

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase