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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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| Publicado no: | Pediatr Diabetes |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| 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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