Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia

McGlacken-Byrne, Sinead; Mohammad, Jasmina; Conlon, Niamh; Gubaeva, Diliara; Siersbaek, Julie; Schou, Anders; DEMİRBİLEK, HÜSEYİN; Dastamani, Antonia; Houghton, Jayne; Brusgaard, Klaus; Melikyan, Maria; Christesen, Henrik; Flanagan, Sarah; Murphy, Nuala; Shah, Pratik

doi:10.1530/eje-21-0897

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia

McGlacken-Byrne S. M., Mohammad J. K., Conlon N., Gubaeva D., Siersbaek J., Schou A. J., ...More

EUROPEAN JOURNAL OF ENDOCRINOLOGY, vol.186, no.4, pp.417-427, 2022 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 186 Issue: 4
Publication Date: 2022
Doi Number: 10.1530/eje-21-0897
Journal Name: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Page Numbers: pp.417-427
Hacettepe University Affiliated: Yes

Abstract

Objective: The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY).