Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

Clinical outcomes in an adult patient with mannose phosphate isomerase-congenital disorder of glycosylation who discontinued mannose therapy

The mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG) is caused by phosphomannose isomerase deficiency. Clinical features include hyperinsulinaemic hypoglycaemia, protein losing enteropathy, hepatomegaly and hepatic fibrosis, digestive symptoms and coagulation abnormalities....

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Bibliographic Details
Main Authors: Kinza Noman, Christian J. Hendriksz, Graham Radcliffe, Federico Roncaroli, Sulleman Moreea, Afifah Hussain, Karolina M. Stepien
Format: Article
Language:English
Published: Elsevier 2020-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mannose phosphate isomerase-congenital disorder of glycosylation
MPI-CDG
Phosphomannose isomerase
Adult
Clinical outcomes
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300926

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http://www.sciencedirect.com/science/article/pii/S2214426920300926

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