ReviewIntractable & rare diseases research2017
Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.
Review in Intractable & rare diseases research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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
20 citing papers in PubMed, 39 citations in OpenAlex.
- Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report.Case reports in medicine · 2026Article
- Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.Cureus · 2024Article
- Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene.BMC pediatrics · 2024Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Article
- Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant.BMJ case reports · 2024Article
- Too much of a good thing: a review of primary immune regulatory disorders.Frontiers in immunology · 2023Review
- Management of Enteritis Associated With Tricohepatoenteric Syndrome due toJPGN reports · 2022Article
- NovelTranslational pediatrics · 2022Article
- Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.The Journal of allergy and clinical immunology · 2022Review
- Case Report: A Novel Homozygous Frameshift Mutation of theFrontiers in genetics · 2022Article
- Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.The Journal of allergy and clinical immunology · 2022Article
- A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report.Cureus · 2021Article
- Case Report: Novel Compound-Heterozygous Variants ofFrontiers in genetics · 2021Article
- A New Variant Mutation inPediatric reports · 2020Article
- Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.Digestive diseases and sciences · 2018Article
- Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.SAGE open medical case reports · 2018Article
- Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology AssociationArticle
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 at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of
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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.