Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
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
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene.
Di Candia S et al.
European Journal of Endocrinology, 2009
The genetic basis of congenital hyperinsulinism.
James C et al.
Journal of Medical Genetics, 2009
3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease.
Yang SY et al.
The Febs Journal, 2005
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
Hyperinsulinism in infancy: from basic science to clinical disease.
Dunne MJ et al.
Physiological Reviews, 2004
Genetics and pathophysiology of hyperinsulinism in infancy.
Cosgrove KE et al.
Hormone Research, 2004
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
Clayton PT et al.
The Journal of Clinical Investigation, 2001