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1997 | 51 | 2 | 205-226
Article title

Inborn errors of metabolism in the carbohydrate - deficient glycoprotein syndrome

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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.
Year
Volume
51
Issue
2
Pages
205-226
Physical description
References
Document Type
article
Publication order reference
K.Zwierz, ul. Zagloby 15, 15-542 Bialystok, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-705319e8-d1f3-3066-a11a-c6e2a3e9254c
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