Congenital disorders of glycosylation: have you encountered them?

Genet Med. 2000 Nov-Dec;2(6):329-37. doi: 10.1097/00125817-200011000-00005.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / therapy*
  • Genes, Recessive / genetics
  • Glycosylation
  • Humans
  • Isoelectric Focusing / methods
  • Mannose / metabolism*
  • Mannose / therapeutic use
  • Muscle Hypotonia / diagnosis
  • Mutation / genetics
  • Oligosaccharides / biosynthesis
  • Oligosaccharides / chemistry
  • Psychomotor Disorders / diagnosis
  • Transferrin

Substances

  • Oligosaccharides
  • Transferrin
  • Mannose