Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Protein losing enteropathy due to congenital disorder of glycosylation: A case report.
Odenthal J et al.
Sage Open Medical Case Reports, 2025
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
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
MPI-CDG with transient hypoglycosylation and antithrombin deficiency.
de la Morena-Barrio ME et al.
Haematologica, 2019
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
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.
Helander A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose.
Tamminga RY et al.
Pediatric Hematology and Oncology, 2008
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment].
Martín Hernández E et al.
Anales De Pediatria (barcelona, Spain : 2003), 2008
Congenital disorders of glycosylation: a review.
Grunewald S et al.
Pediatric Research, 2002
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
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
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
De Graef D et al.
Therapeutic Advances in Rare Disease, 0