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SUN-269 Novel Mutation of the HNF1A Gene in a Patient with Congenital Hyperinsulinism
Background. Hyperinsulinism (HI) is diagnosed based on biochemical evidence of hypoglycemia associated with increased insulin secretion/action. Few individuals with HI harbor mutations in the HNF1A gene; they are hypoglycemic and responsive to diazoxide early in life, but a few of them develop diabe...
Autores principales: | Marinescu, Andreea, De Luca, Francesco, Suarez, Elizabeth |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552777/ http://dx.doi.org/10.1210/js.2019-SUN-269 |
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