MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

Abstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (C...

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Bibliographic Details
Main Authors: Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:JIMD Reports
Subjects:
genetic variants
liver involvement
mannose
MPI‐CDG
portal hypertension
Online Access:https://doi.org/10.1002/jmd2.12159

Internet

https://doi.org/10.1002/jmd2.12159

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