Congenital Hyperinsulinism
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Last Posted: Dec 04, 2024
- The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community.
Vandana Jain, et al. Clinical genetics 2024 0 - 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
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- Page last reviewed:Feb 1, 2024
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