Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia)

Mol Genet Metab. 1999 Oct;68(2):220-6. doi: 10.1006/mgme.1999.2914.
No abstract available

Publication types

  • Review

MeSH terms

  • Base Sequence
  • Congenital Disorders of Glycosylation / diagnosis
  • Congenital Disorders of Glycosylation / enzymology
  • Congenital Disorders of Glycosylation / genetics*
  • Humans
  • Mutation
  • Phosphotransferases (Phosphomutases) / deficiency
  • Phosphotransferases (Phosphomutases) / genetics*

Substances

  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase