Disease: Congenital disorder of glycosylation type 1B
- A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive
- A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
- Carbohydrate-deficient glycoprotein syndrome (CDGS) type Ib. A hereditary metabolic disease and its therapy
- Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma
- Clinical utility gene card for: Phosphomannose isomerase deficiency
- Congenital disorder of glycosylation type 1b. Experience with mannose treatment
- G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1
- Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience
- Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia
- Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms
- N-Linked glycan site occupancy impacts the distribution of a potassium channel in the cell body and outgrowths of neuronal-derived cells
- Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)
- Sex differences in the adolescent brain and body: Findings from the saguenay youth study
- Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose