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| Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park |
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Clin Exp Pediatr. 2016;59(Suppl 1):S116-S120. Published online November 30, 2016 DOI: https://doi.org/10.3345/kjp.2016.59.11.S116 |
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A novel mutation ofABCC8gene in a patient with diazoxide-unresponsive congenital hyperinsulinism Korean Journal of Pediatrics. 2016;59(Suppl 1):S116  Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism Children. 2021;8(10):836 Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism Contemporary Endocrinology. 2019;33-47 A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by 18F-DOPA-PET/CT scan Gene. 2015;572(2):222-226 Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations Gene. 2013;516(1):122-125 SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism Journal of the Endocrine Society. 2019;3(Supplement_1): Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism Diabetes & Metabolic Syndrome: Clinical Research & Reviews. 2014;8(1):45-47 Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia Pediatric Diabetes. 2011;13(3):285-289 Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation Endocrinology, Diabetes & Metabolism Case Reports. 2019;2019: Diazoxide-Responsive Forms of Congenital Hyperinsulinism Contemporary Endocrinology. 2019;15-32 |
