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Last Posted: Jul 11, 2024

• Clinical and genetic characteristics of congenital hyperinsulinism in Norway: A nationwide cohort study.
  Christoffer Drabløs Velde, et al. The Journal of clinical endocrinology and metabolism 2024 0
• Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.
  Cheng-Ting Lee, et al. Frontiers in endocrinology 2023 0 1283907
• Both Low Blood Glucose and Insufficient Treatment Confer Risk of Neurodevelopmental Impairment in Congenital Hyperinsulinism: A Multinational Cohort Study.
  Helleskov Annett, et al. Frontiers in endocrinology 2017 0 156
• Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.
  Su Chang, et al. Journal of diabetes research 2018 0 2802540
• Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.
  Ni Jinwen, et al. European journal of pediatrics 2019 0 (8) 1161-1169
• Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
  Männistö Jonna M E, et al. The Journal of clinical endocrinology and metabolism 2020 0 (4)
• Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11.
  Hewat Thomas I, et al. European journal of endocrinology 2021 0 (6) 813-818
• Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.
  Hashemian Somayyeh, et al. Case reports in endocrinology 2021 0 8826174
• A Sensitive Plasma Insulin Immunoassay to Establish the Diagnosis of Congenital Hyperinsulinism.
  Siersbæk Julie, et al. Frontiers in endocrinology 2021 0 614993
• Focal congenital hyperinsulinism resulting from biallelic loss of function of KCNJ11 gene.
  Garegrat Reema, et al. BMJ case reports 2021 0 (3)
• Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
  Hopkins Jasmin J, et al. The Journal of clinical endocrinology and metabolism 2022 0 (3) 680-687
• Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.
  Yorifuji Tohru, et al. Journal of diabetes investigation 2022 0
• Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
  Hewat Thomas I, et al. Pediatric diabetes 2022 0 (4) 457-461
• Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism.
  Razzaghy-Azar Maryam, et al. Journal of clinical research in pediatric endocrinology 2021 0 (1) 87-95
• KATP channel mutations in congenital hyperinsulinism.
  Saint-Martin Cécile, et al. Seminars in pediatric surgery 2010 0 (1) 18-22
• Clinical characteristics, outcome, and predictors of neurological sequelae of persistent congenital hyperinsulinism: A single tertiary center experience.
  Laimon Wafaa, et al. Pediatric diabetes 2021 2
• Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
  Banerjee Indraneel et al. Wellcome open research 2019 4149
• Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
  Hashemian Somayyeh et al. International journal of endocrinology 2020 20207250406
• Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
  Rosenfeld Elizabeth et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 181(4) 682-692
• Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
  Yau Daphne et al. PloS one 2020 15(2) e0228417
• Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
  Houghton Jayne A L et al. Methods in molecular biology (Clifton, N.J.) 2020 2076129-177
• Prolonged episodes of hypoglycaemia in HNF4A-MODY mutation carriers with IGT. Evidence of persistent hyperinsulinism into early adulthood.
  Bacon S, et al. Acta diabetologica 2016 8
• Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
  Vedovato Natascia, et al. Diabetologia 2016 4
• Feeding Problems Are Persistent in Children with Severe Congenital Hyperinsulinism.
  Banerjee Indraneel, et al. Frontiers in endocrinology 2016 0 8
• Clinical and Genetic Characteristics, Management and Long-Term Follow-Up of Turkish Patients with Congenital Hyperinsulinism.
  Güven Ayla, et al. Journal of clinical research in pediatric endocrinology 2015 12
• Histologic and Molecular Profile of Pediatric Insulinomas: Evidence of a Paternal Parent-of-Origin Effect.
  Bhatti Tricia R, et al. The Journal of clinical endocrinology and metabolism 2016 1 jc20152914
• Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
  Fan Zi-Chuan, et al. Molecular genetics & genomic medicine 2015 11 (6) 526-36
• High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
  Rozenkova Klara, et al. The Journal of clinical endocrinology and metabolism 2015 10 jc20152763
• Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
  Arya Ved Bhushan, et al. European journal of endocrinology / European Federation of Endocrine Societies 2014 12 (6) 685-95
• Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
  Gong Chunxiu, et al. Pediatric diabetes 2015 2

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