MON-110 Utilization of GluCEST, a Novel Neuroimaging Technique, to Characterize the Brain Phenotype in Hyperinsulinism/Hyperammonemia Syndrome

BACKGROUND: Hyperinsulinism/Hyperammonemia (HI/HA) syndrome is the second most common form of congenital hyperinsulinism. It is caused by gain-of-function mutations in glutamate dehydrogenase (GDH), a mitochondrial enzyme expressed in pancreatic β-cells, liver, kidney, and brain, and is responsible...

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Vydáno v:J Endocr Soc
Hlavní autoři: Rosenfeld, Elizabeth, Nanga, Ravi P R, Reddy, Ravinder, Revell, Andy, Roalf, David R, Davis, Kathryn A, De Leon, Diva D
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Pediatric Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209661/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.594
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