Associated Papers
Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review.
Martzolff L et al.
Molecular Genetics and Metabolism, 2025
A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.
Lin EB et al.
Jci Insight, 2025
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A et al.
Journal of Inherited Metabolic Disease, 2020
MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
de la Morena-Barrio ME et al.
Haematologica, 2019
Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.
Sharma V et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Congenital disorders of glycosylation: a review.
Grunewald S et al.
Pediatric Research, 2002
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).
Schollen E et al.
Human Mutation, 2000
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.
de Lonlay P et al.
The Journal of Pediatrics, 1999
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