ArticleJIMD reports2017
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
- Food Protein-Induced Enterocolitis Syndrome Across Lifespan: Focus on Adolescence.Journal of clinical medicine · 2025Review
- Identification of Compound HeterozygousCase reports in pediatrics · 2025Article
- Identification and characterization of a new variation inFrontiers in genetics · 2023Article
- Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.Frontiers in genetics · 2022Article
- A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.European journal of human genetics : EJHG · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES.
Identifiers
What OpenQuestion holds
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.