Associated Papers
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco K et al.
Journal of Inherited Metabolic Disease, 2021
Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
Heslegrave AJ et al.
Orphanet Journal of Rare Diseases, 2012
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Flanagan SE et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Select a paper to view details