Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism

Background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (wh...

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Detalhes bibliográficos
Main Authors: Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2013
Assuntos:
Unique/Unexpected Symptoms or Presentations of a Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3922076/
https://ncbi.nlm.nih.gov/pubmed/24616771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-13-0041
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