Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Heterozygous Insulin Receptor <italic>(INSR)</italic> Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Mutations in the <i>insulin receptor</i> (<i>INSR</i>) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous <i>INSR</i> mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and ch...

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Bibliographic Details
Main Authors: Aashish Sethi, Nicola Foulds, Sarah Ehtisham, Syed Haris Ahmed, Jayne Houghton, Kevin Colclough, Mohammed Didi, Sarah E. Flanagan, Senthil Senniappan
Format: Article
Language:English
Published: Galenos Yayincilik 2020-12-01
Series:JCRPE
Subjects:
insr mutation
congenital hyperinsulinism
neonatal hyperinsulinemic hypoglycemia
familial diabetes mellitus
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/heterozygous-nsulin-receptor-insr-i-mutation-assoc/34637

Internet

http://www.jcrpe.org/archives/archive-detail/article-preview/heterozygous-nsulin-receptor-insr-i-mutation-assoc/34637

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