K Zwierz 1 , A T Midro
1. Zakład Biochemii Farmaceutycznej, Instytutu Chemii, Chorób Kobiecych AkademiiMedycznej w Białymstoku.
Published:
GICID: 01.3001.0000.3130
Available language versions: en pl
Issue: Postepy Hig Med Dosw 1997; 51 (2)
Abstract
The carbohydrate-deficient glycoprotein syndromes are multisystemic inherited diseases with severe nervous system involvement. There is indirect evidence for deficiency of phosphomannomutase in type I and direct evidence for a deficiency of N-acetylglucosaminyltransferase II in type II. The disease is characterized by carbohydrate deficiencies of a number glycoproteins, including serum sialotransferrins.