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disease > genetic disease > hereditary disease > carbohydrate deficient glycoprotein syndrome
disease > metabolic diseases > carbohydrate deficient glycoprotein syndrome
disease > enzymopathy > carbohydrate deficient glycoprotein syndrome
disease > nervous system diseases > carbohydrate deficient glycoprotein syndrome

Terme préférentiel

carbohydrate deficient glycoprotein syndrome  

Définition

  • A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-PJQJX191-B

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