Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2

CONTEXT: The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation of glucose vs amino acids. OBJECTIVE: To evaluate the frequency of UCP2 mutatio...

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Detalles Bibliográficos
Publicado en:J Clin Endocrinol Metab
Main Authors: Ferrara, Christine T., Boodhansingh, Kara E., Paradies, Eleonora, Giuseppe, Fiermonte, Steinkrauss, Linda J., Topor, Lisa Swartz, Quintos, Jose Bernardo, Ganguly, Arupa, De Leon, Diva D., Palmieri, Ferdinando, Stanley, Charles A.
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2016
Assuntos:
Clinical Research Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5460685/
https://ncbi.nlm.nih.gov/pubmed/27967291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3164
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