Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.
Luo C et al.
Molecular Genetics and Metabolism Reports, 2024
Portrait of autosomal recessive diseases in the French-Canadian founder population of Saguenay-Lac-Saint-Jean.
Cruz Marino T et al.
American Journal of Medical Genetics. Part A, 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
Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard M et al.
Journal of Inherited Metabolic Disease, 2020
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
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
[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 disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
Leroy JG
Pediatric Research, 2006
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.
Vuillaumier-Barrot S et al.
Journal of Medical Genetics, 2002
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