Last Updated: 09/26/2026
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Found 13 publications
Natural History of the Hyperinsulinism/Hyperammonemia Syndrome: A Retrospective Review Incorporating Patient-Centered Data.
Journal: Hormone research in paediatrics
Published: December 23, 2025
Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.
Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.
Journal: Orphanet journal of rare diseases
Published: December 23, 2025
Global Disparities in Congenital Hyperinsulinism Care.
Journal: Endocrinology and metabolism clinics of North America
Published: May 10, 2025
Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.
Journal: American journal of medical genetics. Part A
Published: September 11, 2024
Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.
Journal: Journal of the Endocrine Society
Published: April 07, 2024
Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.
Journal: Current opinion in pediatrics
Published: March 28, 2023
Undiagnosed hypoglycaemia disorders in children detected when hypoglycaemia occurs in the setting of illness: a retrospective study.
Journal: BMJ paediatrics open
Published: December 28, 2022
Correction: Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.
Journal: Orphanet journal of rare diseases
Published: August 18, 2022
Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
Journal: Hormone research in paediatrics
Published: June 29, 2022
Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome.
Journal: Orphanet journal of rare diseases
Published: April 05, 2022
Incidence and risk factors for hypoglycemia during maintenance chemotherapy in pediatric acute lymphoblastic leukemia.
Journal: Pediatric blood & cancer
Published: August 10, 2021
Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events.
Journal: Frontiers in pediatrics
Published: April 22, 2021
Last Updated: 09/26/2026