Inborn errors of metabolism in the carbohydrate - deficient glycoprotein syndrome
Languages of publication
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.
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