Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Congenital Disorders of Glycosylation / genetics*
  • Congenital Disorders of Glycosylation / physiopathology
  • Humans
  • Intestinal Diseases / enzymology*
  • Liver Diseases / enzymology*
  • Mannose-6-Phosphate Isomerase / deficiency*
  • Molecular Sequence Data
  • Syndrome

Substances

  • Mannose-6-Phosphate Isomerase