Inborn errors of metabolism in the carbohydrate - deficient glycoprotein syndrome

• Authors: K. Zwierz , A.T. Midro
• Languages of publication: PL

Abstracts

EN

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 deficiences of a number glycoproteins, including serum sialotransferrins.

Keywords

EN

NEUROMETABOLIC INHERITED DISEASE; SIALOTRANSFERRIN

Discipline

• EXPERIMENTAL_BIOLOGY_&_MEDICINE: EXPERIMENTAL BIOLOGY & MEDICINE

• Journal: Postępy Higieny i Medycyny Doświadczalnej
• Year: 1997
• Volume: 51
• Issue: 2
• Pages: 205-226

Contributors

author

K. Zwierz

author

A.T. Midro

• Document Type: article
• Publication order reference: K.Zwierz, ul. Zagloby 15, 15-542 Bialystok, Poland