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. 2022 Oct 12;11(20):6020. doi: 10.3390/jcm11206020
HH hyperinsulinaemic hypoglycaemia
ABCC8 ATP-Binding Cassette Subfamily C Member 8
KCNJ11 Potassium Inwardly-Rectifying Channel Subfamily J Member 11
GLUD1 Glutamate Dehydrogenase 1
GCK Glucokinase
HADH Hydroxyacyl-CoA Dehydrogenase
SLC16A1 Solute Carrier Family 16 Member 1
MCT-1 Monocarboxylate Transporter Subtype 1
UCP2 Uncoupling Protein 2
HNF4A Hepatocyte Nuclear Factor 4A
HNF1A Hepatocyte Nuclear Factor 1A
HK1 Hexokinase 1
PGM1 Phosphoglucomutase 1
PMM2 Phosphomannomutase 2CHI–Congenital hiperinsulinism
GLUT-2 Glucose Transporter 2SUR1–Sylfonylourea Receptor 1
CHH Congenital Hyperinsulinaemic Hypoglycaemia
(18)F-DOPA PET Fluorine-18-dihydroxyphenyloalanine Positron Emission Tomography
CT Computed Tomography
SSTR2 somatostatin receptor 2
SSTR5 somatostatin receptor 5
QoL Quality of Life
mTOR mammalian Target of Rapamycin
GLP-1 Glucagon-like peptide-1
HRQoL Health-related quality of life
CAH Congenital adrenal hyperplasia
MS-MLPA Methylation-specific multiplex ligation-dependent probe amplification
WES Whole exome sequencing
PHHI Persistent hyperinsulinaemic hypoglycaemia of infancy
CGM Continuous glucose monitoring
FGM Flash glucose monitoring