| congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 (aandoening) |
| congenitaal defect in glycosylering gerelateerd aan onderdeel van oligomeer golgi-complex 8 |
| congenitaal defect in glycosylering type 2h
COG8-CDG
congenitaal defect in glycosylering gerelateerd aan COG8
|
| COG8 congenital disorder of glycosylation |
| COG8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type IIh
Component of oligomeric golgi complex 8 congenital disorder of glycosylation
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
|
| The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. |
