Familial Focal Congenital Hyperinsulinism

BACKGROUND: Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia. Histologically, there are two subgroups, diffuse and focal. Focal CHI is a consequence of two independent events, inheritance of a paternal mutation in ABCC8/KCNJ11 and paternal uniparental isodisomy of chromosome 11...

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Autors principals: Ismail, Dunia, Smith, Virpi V., de Lonlay, Pascale, Ribeiro, Maria-Joao, Rahier, Jacques, Blankenstein, Oliver, Flanagan, Sarah E., Bellanné-Chantelot, Christine, Verkarre, Virginie, Aigrain, Yves, Pierro, Agostino, Ellard, Sian, Hussain, Khalid
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2011
Matèries:
Special Features
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3217340/
https://ncbi.nlm.nih.gov/pubmed/20943779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1524
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