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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature
JIMD Reports, Volume 56, No. 1, Year 2020
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Description
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 (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI-CDG. Oral mannose therapy was markedly effective in one patient but was only partially effective in the other who showed progressive portal hypertension. © 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Authors & Co-Authors
Abdel-Ghaffar, Tawhida Yassin
Egypt, Cairo
Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research
Egypt, Cairo
Ain Shams University
Ng, Bobby George
United States, San Diego
Sanford Burnham Prebys Medical Discovery Institute
Elsayed, Solaf M.
Egypt, Cairo
Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research
Egypt, Cairo
Ain Shams University
El-Naghi, Suzan
Egypt, Cairo
Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research
Egypt, Cairo
National Hepatology and Tropical Medicine Research Institute
Helmy, Sarah
Egypt, Cairo
Yassin Abdel Ghaffar Charity Centre for Liver Disease and Research
El-Hennawy, Ahmed Mohamed Yehia
Egypt, Giza
Cairo University
Freeze, Hudson H.
United States, San Diego
Sanford Burnham Prebys Medical Discovery Institute
Statistics
Citations: 4
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1002/jmd2.12159
ISSN:
21928304
Research Areas
Health System And Policy
Noncommunicable Diseases