Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism

J Med Genet. 2000 Nov;37(11):875-7. doi: 10.1136/jmg.37.11.875.
No abstract available

Publication types

  • Case Reports
  • Comparative Study
  • Letter
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Congenital Disorders of Glycosylation / complications
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / pathology
  • Diarrhea / etiology
  • Face / abnormalities*
  • Glycoproteins / blood
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • N-Acetylglucosaminyltransferases / genetics
  • N-Acetylglucosaminyltransferases / metabolism
  • Point Mutation
  • Transferrin / metabolism

Substances

  • Glycoproteins
  • Transferrin
  • N-Acetylglucosaminyltransferases
  • beta-1,3-galactosyl-0-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase