Associated Papers
Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.
Zhang W et al.
Orphanet Journal of Rare Diseases, 2021
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
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Nessa A et al.
Frontiers in Endocrinology, 2016
Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.
Heslegrave AJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Martins E et al.
Journal of Inherited Metabolic Disease, 2011
Congenital hyperinsulinism due to mutations in HNF4A and HADH.
Kapoor RR et al.
Reviews in Endocrine & Metabolic Disorders, 2010
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.
Kapoor RR et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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