Associated Papers
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
40302972 (PubMed )
Supplement: 3961900.f1.docx
Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.
Aftab S et al.
Endocrine Connections, 2023
Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.
Sharma R et al.
Indian Pediatrics, 2022
34992182 (PubMed )
Supplement: 13312_2022_2438_MOESM1_ESM.pdf
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1.
Roy K et al.
Indian Journal of Pediatrics, 2019
Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.
Su C et al.
Journal of Diabetes Research, 2018
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Faletra F et al.
Gene, 2013
No association between NOD2 variants and Parkinson's disease.
Appenzeller S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2012
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