Associated Papers
Long Term Follow up of Short-Chain-L-3-Hydroxyacyl-CoA Dehydrogenase (SCHAD) Deficiency Causing Hypoglycemia and Developmental Delays in Two Syrian Brothers.
Li A et al.
Indian Journal of Pediatrics, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism
Razzaghy-Azar M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.
Hashemian S et al.
Case Reports in Endocrinology, 2021
Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.
Casertano A et al.
Italian Journal of Pediatrics, 2020
A Case Series: Congenital Hyperinsulinism.
Alaei MR et al.
International Journal of Endocrinology and Metabolism, 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
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
Sogno Valin P et al.
Hormone Research in Paediatrics, 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
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
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
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra.
Şimşek E et al.
The Turkish Journal of Pediatrics, 0