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
Establishment of a human induced pluripotent stem cell line（SDQLCHi059-A）from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene.
Wang B et al.
Stem Cell Research, 2024
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
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
Abdel Ghaffar TY et al.
Jimd Reports, 2020
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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