Congenital disorder of glycosylation type 1B

Known as: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib, SLSJ SYNDROME, CDG, GASTROINTESTINAL TYPE 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2010-2017
012320102017

Papers overview

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2017
2017
The congenital disorders of glycosylation (CDG) represent a group of autosomal recessive diseases involving at least 15 genes… (More)
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2014
2014
CASE REPORT In a routine company health check-up, a 32-year-old woman presented a highly elevated serum level of carbohydrate… (More)
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2014
2014
Patients with congenital disorder of glycosylation (CDG), type Ib (MPI-CDG or CDG-Ib) have mutations in phosphomannose isomerase… (More)
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2014
2014
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than 70 subtypes have been… (More)
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2010
2010
MPI-CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing… (More)
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