Associated Papers
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.
Yavas Abali Z et al.
Endocrine, 2025
Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.
Abdulghfar MM et al.
Journal of Medical Case Reports, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.
Pacheco G et al.
Plos One, 2025
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 2024
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Aftab S et al.
Endocrine Connections, 2023
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Hopkins JJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
Boodhansingh KE et al.
Hormone Research in Paediatrics, 2022
[Clinical features and genetic analysis of seven patients with congenital hyperinsulinism].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.
Su C et al.
Journal of Diabetes Research, 2018
A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.
Barrosse-Antle M et al.
Pediatric Diabetes, 2017
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Faletra F et al.
Gene, 2013
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC et al.
Plos One, 2013
Hyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy.
Pérez Errazquin F et al.
Neurologia (barcelona, Spain), 2011