Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)

J Med Genet. 2009 Apr;46(4):287-8. doi: 10.1136/jmg.2008.057620.
No abstract available

Publication types

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

MeSH terms

  • Congenital Disorders of Glycosylation / complications
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / etiology
  • Humans
  • Male
  • Mutation
  • Phosphotransferases (Phosphomutases) / genetics

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase 2, human