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. 2019 May 27;20(10):2590. doi: 10.3390/ijms20102590
HH Hyperinsulinaemic Hypoglycemia
DM Diabetes Mellitus
T2DM Type 2 Diabetes Mellitus
SUR1 Sulphonylurea receptor 1
KIR6.2 Inward rectifier potassium channel subunit 2
MCT1 Monocarboxylate transporter 1
MODY Maturity-onset diabetes of the young
SLC2A2 Solute carrier family 2 member 2
GWAS Genome-Wide Association Studies
GLUT 2 Glucose transporter 2
G6P Glucose-6-phosphate
ATP Adenosine triphosphate
ADP Adenosine diphosphate
KATP ATP-sensitive potassium channels
KCNJ11 Potassium Voltage-Gated Channel Subfamily J Member 11
ABCC8 ATP-binding cassette subfamily C member 8
KCNH6 Potassium voltage-gated channel subfamily H member 6
SNP Single nucleotide polymorphism
LQTS long-QT syndrome
CACNA1D Calcium Voltage-Gated Channel Subunit Alpha1 D
CACNA1C Calcium Channel, Voltage-Dependent, L Type, alpha 1C Subunit
SLC16A1 Solute carrier family 16, member 1
NDM Neonatal diabetes mellitus
TNDM Transient NDM
PNDM Permanent NDM
DEND Developmental delay and epilepsy syndrome
SLC2A2 Solute carrier family 2 member 2
FBS Fanconi Bickel syndrome
HbA1c Glycated haemoglobin
TRMA Thiamine-responsive megaloblastic anaemia
THTR-1 Thiamine transporter 1 protein
THTR-2 Thiamine transporter 2
SLC19A2 The Solute Carrier Family 19 Member 2
SND Sensorineural deafness
ZnT8 Zinc transporter family member 8
RFC1 Reduced folate carrier 1
TMP Thiamine monophosphate
TMPase Thiamine monophosphatase
HACL1 2-Hydroxyacyl-CoA Lyase 1
TPP Thiamine pyrophosphate
TPPase Thiamine pyrophosphatase
TK-TPP Transketolase-Thiamine pirophosphate
TPK Thiamine pyrophosphokinase
TDP Thiamine diphosphate