ReviewReviews in endocrine & metabolic disorders2010
Congenital hyperinsulinism due to mutations in HNF4A and HADH.
Review in Reviews in endocrine & metabolic disorders, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
The trial behind it
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- Short-chain L-3-hydroxyacyl-CoA dehydrogenase: A novel vital oncogene or tumor suppressor gene in cancers.Frontiers in pharmacology · 2022Review
- Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.European journal of pediatrics · 2021Article
- Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South ChinaJournal of clinical research in pediatric endocrinology · 2019Article
- Clinical characteristics and phenotype-genotype review of 25 Omani children with congenital hyperinsulinism in infancy. A one-decade single-center experience.Saudi medical journal · 2019Article
- Current and Emerging Agents for the Treatment of Hypoglycemia in Patients with Congenital Hyperinsulinism.Paediatric drugs · 2019Review
- Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.The Journal of clinical endocrinology and metabolism · 2018Article
- Congenital Hyperinsulinism: Diagnosis and Treatment Update.Journal of clinical research in pediatric endocrinology · 2017Review
- Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years.Journal of clinical research in pediatric endocrinology · 2017Review
- Single-cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes.Genome research · 2017Article
- Diagnosis and treatment of hyperinsulinaemic hypoglycaemia and its implications for paediatric endocrinology.International journal of pediatric endocrinology · 2017Review
- The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.Journal of clinical research in pediatric endocrinology · 2015Review
- Identification of gene signatures used to recognize biological characteristics of gastric cancer upon gene expression data.Biomarker insights · 2014Article
- Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management.Journal of clinical research in pediatric endocrinology · 2012Review
- A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.Case reports in nephrology and dialysisArticle
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
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the HADH and HNF4A genes are rare causes of diazoxide responsive congenital hyperinsulinism (CHI). This chapter details the phenotype known to be associated with mutations in these genes. Additionally, the authors give a brief overview of the role of these genes in glucose physiology and the possible mechanisms of CHI in patients with mutations in these genes.
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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.