Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome

INTRODUCTION: The hyperinsulinemia-hyperammonemia syndrome (HIHA) is the second most common cause of congenital hyperinsulinism and is caused by activating heterozygous missense mutations in GLUD1. In the majority of HIHA cases, the GLUD1 mutation is found to be de novo. We have identified 3 patient...

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Detalles Bibliográficos
Autores principales: Boodhansingh, Kara E., Rosenfeld, Elizabeth, Lord, Katherine, Adzick, N. Scott, Bhatti, Tricia, Ganguly, Arupa, De Leon, Diva D., Stanley, Charles A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Novel Insights from Clinical Practice / Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671865/
https://www.ncbi.nlm.nih.gov/pubmed/35952631
http://dx.doi.org/10.1159/000526203

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671865/
https://www.ncbi.nlm.nih.gov/pubmed/35952631
http://dx.doi.org/10.1159/000526203

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