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OR05-2 Targeted Inhibition of Glutamate Dehydrogenase by Alpha-Tocopherol: A Potential Novel Treatment for Hyperinsulinism Hyperammonemia Syndrome

Congenital hyperinsulinism is a rare genetic disorder that causes severe hypoglycemia and can lead to permanent brain damage if inadequately controlled. Gain of function mutations in glutamate dehydrogenase (GDH) result in hyperinsulinism hyperammonemia (HI/HA) syndrome, the second most common cause...

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Detalles Bibliográficos
Autores principales: Rosenfeld, Elizabeth, Li, Changhong, De Leon-Crutchlow, Diva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555078/
http://dx.doi.org/10.1210/js.2019-OR05-2