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The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C (zeige CYP ELISA Kits) member 8 (ABCC8 (zeige ABCC8 ELISA Kits)) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 (zeige KCNJ11 ELISA Kits) channel (KCNJ11 (zeige KCNJ11 ELISA Kits)) genes.
We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH (zeige HADHA ELISA Kits) splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression
in a cohort of hyperinsulinemic hypoglycemia patients from Isfahan, Iran, 78% were noted to have disease-causing mutations: 48% had HADH (zeige HADHA ELISA Kits) mutations and 26% had ABCC8 (zeige ABCC8 ELISA Kits) mutations.
Next-generation sequencing reveals deep intronic cryptic ABCC8 (zeige ABCC8 ELISA Kits) and HADH (zeige HADHA ELISA Kits) splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase (HADH) cause leucine sensitive hyperinsulinaemic hypoglycaemia.
Clinical, biochemical and molecular findings of four new Caucasian patients with HADH (zeige HADHA ELISA Kits) deficiency.
We recommend that HADH (zeige HADHA ELISA Kits) sequence analysis is considered in all patients with diazoxide-responsive hyperinsulinemic hypoglycemia when recessive inheritance is suspected
Congenital hyperinsulinism due to mutations in HNF4A (zeige HNF4A ELISA Kits) and HADH (zeige HADHA ELISA Kits).
SCHAD (zeige HSD17B10 ELISA Kits) deficiency can result in persistent hyperinsulinemic hypoglycemia of infancy
Unlikely that variation in HADHSC plays a major role in the pathogenesis of type 2 diabetes in the examined cohorts.
A physical association between short-chain 3-hydroxyacyl-coenzyme A dehydrogenase and important components of other key metabolic pathways. Most of the interactions were with enzymes in mitochondrial pathways.
SCHAD (zeige HSD17B10 ELISA Kits) is involved in thermogenesis, in the maintenance of body weight, and in the regulation of nutrient-stimulated insulin (zeige INS ELISA Kits) secretion
SCHAD (zeige HSD17B10 ELISA Kits) deficiency causes hyperinsulinism by activation of GDH (zeige UGDH ELISA Kits) via loss of inhibitory regulation of GDH (zeige UGDH ELISA Kits) by SCHAD (zeige HSD17B10 ELISA Kits).
Results demonstrate that L-3-hydroxyacyl-CoA dehydrogenase type II (zeige HSD17B10 ELISA Kits) (HADH (zeige HSD17B10 ELISA Kits) II/ABAD (zeige HSD17B10 ELISA Kits)) modulates 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine neurotoxicity and suggests that mimetics may provide protective benefit in the treatment of Parkinson disease.
SCHAD (zeige HSD17B10 ELISA Kits) regulates insulin (zeige INS ELISA Kits) secretion through a KATP channel-independent mechanism.
This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15.
hydroxyacyl-Coenzyme A dehydrogenase
, L-3-hydroxyacyl-Coenzyme A dehydrogenase
, L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain
, hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
, 3-hydroxyacyl-CoA dehydrogenase (short-chain)
, Short chain 3-hydroxyacyl-CoA dehydrogenase
, short chain 3-hydroxyacyl-coa dehydrogenase
, medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
, short-chain 3-hydroxyacyl-CoA dehydrogenase
, hydroxylacyl-Coenzyme A dehydrogenase short chain
, hydroxylacyl-Coenzyme A dehydrogenase, short chain
, medium and short chain L-3-hydroxyacyl-coenzyme A dehydrogenase
, short chain 3-hydroxyacyl-CoA dehydrogenase
, L-3-hydroxyacyl-CoA dehydrogenase
, hydroxylacyl-Coenzyme A dehydrogenase-dehydrogenase