ArticleJIMD reports2020
MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.JCI insight · 2025Article
- Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.Molecular genetics and metabolism reports · 2024Article
- Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.Frontiers in pediatrics · 2023Review
- MPI-CDG from a hepatic perspective: Report of two Egyptian cases and review of literature.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
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 (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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.