ReviewFrontiers in endocrinology2022
Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease.
Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- International Guidelines for the Diagnosis and Management of Hyperinsulinism.Hormone research in paediatrics · 2024Guideline
- Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.Orphanet journal of rare diseases · 2026Article
- Determinants of hyperinsulinism severity in children with Beckwith-Wiedemann syndrome.The Journal of clinical endocrinology and metabolism · 2026Article
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- Diazoxide-Responsive Congenital Hyperinsulinism in a Preterm Infant With HomozygousCase reports in endocrinology · 2026Article
- Advances in Pharmacotherapy for Congenital Hyperinsulinism.Paediatric drugs · 2026Review
- From standard to individualized diazoxide therapy in congenital hyperinsulinism: a narrative review.Frontiers in pharmacology · 2026Review
- Single-center experience description of surgical management of diffuse congenital hyperinsulinism in a pediatric non-current cohort.Frontiers in endocrinology · 2026Article
- Cells Co-Producing Insulin and Glucagon in Congenital Hyperinsulinism.Life (Basel, Switzerland) · 2025Article
- Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair KThe Journal of biological chemistry · 2025Article
- Neonatal Congenital Hyperinsulinism: A Case-Based Contribution to the Understanding of a Rare Disorder.Cureus · 2025Article
- Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses.The Journal of clinical endocrinology and metabolism · 2025Article
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- Article
- Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network.Frontiers in endocrinology · 2025Article
- The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease.Hormone research in paediatrics · 2025Review
- Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing.Frontiers in endocrinology · 2025Article
- Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.PloS one · 2025Article
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
- Germline and somatic mutations in histologically atypical congenital hyperinsulinism.Frontiers in endocrinology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as a feature of syndromic disease. Establishing the underlying aetiology of the hyperinsulinism is critical for guiding medical management of this condition especially in children with diazoxide-unresponsive hyperinsulinism where the underlying genetics determines whether focal or diffuse pancreatic disease is present. Disease-causing single nucleotide variants affecting over 30 genes are known to cause persistent hyperinsulinism with mutations in the KATP channel genes (
Indexed as
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.