Associated Papers
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Nessa A et al.
Frontiers in Endocrinology, 2016
Dimerization interface of 3-hydroxyacyl-CoA dehydrogenase tunes the formation of its catalytic intermediate.
Xu Y et al.
Plos One, 2014
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
The genetic basis of congenital hyperinsulinism.
James C et al.
Journal of Medical Genetics, 2009
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
Hussain K et al.
The Journal of Pediatrics, 2005
General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.
Spiekerkoetter U et al.
Pediatric Research, 2004
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