Associated Papers
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
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
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
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