Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement

Arq Neuropsiquiatr. 2008 Sep;66(3A):545-8. doi: 10.1590/s0004-282x2008000400021.
No abstract available

Publication types

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

MeSH terms

  • Atrophy
  • Brain / pathology*
  • Brain Diseases / pathology*
  • Child
  • Congenital Disorders of Glycosylation / pathology*
  • Electroencephalography
  • Evoked Potentials
  • Female
  • Glycoproteins* / blood
  • Glycoproteins* / deficiency
  • Glycosylation
  • Humans
  • Magnetic Resonance Imaging
  • Phosphotransferases (Phosphomutases) / analysis
  • Phosphotransferases (Phosphomutases) / deficiency*

Substances

  • Glycoproteins
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase