Congenital disorder of glycosylation type 1B
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The congenital disorders of glycosylation (CDG) represent a group of autosomal recessive diseases involving at least 15 genes… (More)
In a routine company health check-up, a 32-year-old woman presented a highly elevated serum level of carbohydrate… (More)
Patients with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phosphomannose isomerase… (More)
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than 70 subtypes have been… (More)
- Journal of Inherited Metabolic Disease
MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing… (More)