Associated Papers
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.
Luo C et al.
Molecular Genetics and Metabolism Reports, 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
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
[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].
Lin XM et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.
Penel-Capelle D et al.
Journal of Inherited Metabolic Disease, 2003
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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