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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Detaylı Bibliyografya
Asıl Yazarlar: Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Bioscientifica Ltd 2013
Konular:
Unique/Unexpected Symptoms or Presentations of a Disease
Online Erişim: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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