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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Bioscientifica Ltd 2013
Gaiak:
Unique/Unexpected Symptoms or Presentations of a Disease
Sarrera elektronikoa: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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