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First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment

In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most rec...

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Detalhes bibliográficos
Publicado no:J Diabetes Investig
Principais autores: Ioacara, Sorin, Flanagan, Sarah, Fröhlich‐Reiterer, Elke, Goland, Robin, Fica, Simona
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5583959/
https://ncbi.nlm.nih.gov/pubmed/28083968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jdi.12620
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