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A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase

Activating mutations in the GLUD1 gene, which encodes glutamate dehydrogenase (GDH), result in the hyperinsulinism-hyperammonemia syndrome. GDH is an allosterically regulated enzyme responsible for amino acid-mediated insulin secretion via the oxidative deamination of glutamate to 2-oxoglutarate, le...

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Detalhes bibliográficos
Publicado no:Pediatr Diabetes
Main Authors: Barrosse-Antle, Mary, Su, Chang, Chen, Pan, Boodhansingh, Kara E., Smith, Thomas J, Stanley, Charles A, De León, Diva D., Li, Changhong
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5545170/
https://ncbi.nlm.nih.gov/pubmed/28165182
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/pedi.12507
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