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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Chandran, Suresh, Peng, Fabian Yap Kok, Rajadurai, Victor Samuel, Lu, Yap Te, Chang, Kenneth T E, Flanagan, S E, Ellard, S, Hussain, Khalid
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Bioscientifica Ltd 2013
विषय:
Unique/Unexpected Symptoms or Presentations of a Disease
ऑनलाइन पहुंच: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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