ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.
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.
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
57 citing papers in PubMed, 1 synthesis or guideline pooled it, 95 citations in OpenAlex.
- Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.Reviews in endocrine & metabolic disorders · 2022Pooled it
- Dasiglucagon in Children With Congenital Hyperinsulinism Up to 1 Year of Age: Results From a Randomized Clinical Trial.The Journal of clinical endocrinology and metabolism · 2025Trial
- Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.The Journal of clinical endocrinology and metabolism · 2026Article
- Article
- Double Trouble: When Focal and Diffuse Hyperinsulinism Occur Simultaneously.Hormone research in paediatrics · 2026Article
- Article
- Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders.Frontiers in endocrinology · 2026Review
- 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
- Treatment of Congenital Hyperinsulinism With a Novel, Long-acting Glucagon Analogue.JCEM case reports · 2025Article
- Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.BMC medical genomics · 2025Article
- Strategies for optimization of hypoglycemia rat models.Animal models and experimental medicine · 2025Review
- Searching for protein partners of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) reveals keratin 8 as a novel candidate for interaction in pancreatic β-cells.BMC molecular and cell biology · 2025Article
- Article
- Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene MutationJournal of clinical research in pediatric endocrinology · 2025Article
- Postprandial Hypoglycemia in a Patient With Clinical Beckwith-Wiedemann Syndrome.JCEM case reports · 2025Article
- Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism.Genetics research · 2025Article
- Severe transient neonatal hyperinsulinism: First Peruvian case series.SAGE open medical case reports · 2025Article
- Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network.Frontiers in endocrinology · 2025Article
- EndoCompass Project: Research Roadmap for Diabetes, Obesity, and Metabolism.Hormone research in paediatrics · 2025Review
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 2 institutions in 1 country.
Funding
Abstract
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. Delays in diagnosis and initiation of appropriate treatment contribute to a high risk of neurocognitive impairment. HI represents a heterogeneous group of disorders characterized by dysregulated insulin secretion by the pancreatic beta cells, which in utero, may result in somatic overgrowth. There are at least nine known monogenic forms of HI as well as several syndromic forms. Molecular diagnosis allows for prediction of responsiveness to medical treatment and likelihood of surgically-curable focal hyperinsulinism. Timely genetic mutation analysis has thus become standard of care. However, despite significant advances in our understanding of the molecular basis of this disorder, the number of patients without an identified genetic diagnosis remains high, suggesting that there are likely additional genetic loci that have yet to be discovered.
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.