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Last Updated: 10/31/2025
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Found 58 publications
A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.
Journal: JCI insight
Published: July 15, 2024
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
Journal: Journal of clinical medicine
Published: May 21, 2021
Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.
Journal: JIMD reports
Published: May 06, 2021
Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy.
Journal: Molecular genetics and metabolism reports
Published: July 24, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Journal: Journal of inherited metabolic disease
Published: February 07, 2020
MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
Journal: Haematologica
Published: December 14, 2018
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.
Journal: Turk pediatri arsivi
Published: March 27, 2018
Sex differences in the adolescent brain and body: Findings from the saguenay youth study.
Journal: Journal of neuroscience research
Published: May 04, 2016
Structural Studies of Lipopolysaccharide-defective Mutants from Brucella melitensis Identify a Core Oligosaccharide Critical in Virulence.
Journal: The Journal of biological chemistry
Published: November 04, 2015
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.
Journal: Pediatrics
Published: July 02, 2014
Clinical utility gene card for: Phosphomannose isomerase deficiency.
Journal: European journal of human genetics : EJHG
Published: February 27, 2014
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.
Journal: Glycobiology
Published: January 30, 2014
Last Updated: 10/31/2025