Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

Abstract Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG. The frequency and etiology of hypoglycemia in PMM2‐CDG are not well studied. Methods We conducted a systemat...

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Bibliographic Details
Main Authors: Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:JIMD Reports
Subjects:
CDG
congenital disorder(s) of glycosylation
diazoxide
hyperinsulinism
hypoglycemia
phosphomannomutase 2
Online Access:https://doi.org/10.1002/jmd2.12085

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