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Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
Mutations in the insulin receptor (INSR) gene are associated with insulin resistance and hyperglycaemia. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal...
Autores principales: | Sethi, Aashish, Foulds, Nicola, Ehtisham, Sarah, Ahmed, Syed Haris, Houghton, Jayne, Colclough, Kevin, Didi, Mohammed, Flanagan, Sarah E., Senniappan, Senthil |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711633/ https://www.ncbi.nlm.nih.gov/pubmed/31989990 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0106 |
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