Associated Papers
The genetics of monogenic intestinal epithelial disorders.
Babcock SJ et al.
Human Genetics, 2023
Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.
Lu S et al.
Frontiers in Pediatrics, 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
An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.
Haznedar P et al.
Turk Pediatri Arsivi, 2020
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.
Deeb A et al.
Clinical Case Reports, 2018
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
Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity.
Freeze HH et al.
Biochimica Et Biophysica Acta, 1999
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