First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism

Monogenic Diabetes is relatively rare, representing only 1-2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as type 1 diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members. In the present article, we describe a case of a young...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Koufakis, Theocharis, Sertedaki, Amalia, Tatsi, Elizabeth-Barbara, Trakatelli, Christina-Maria, Karras, Spyridon N., Manthou, Eleni, Kanaka-Gantenbein, Christina, Kotsa, Kalliopi
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6487141/
https://ncbi.nlm.nih.gov/pubmed/31110826
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/3654618
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