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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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Detalles Bibliográficos
Autores principales:	Ioacara, Sorin, Flanagan, Sarah, Fröhlich‐Reiterer, Elke, Goland, Robin, Fica, Simona
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583959/ https://www.ncbi.nlm.nih.gov/pubmed/28083968 http://dx.doi.org/10.1111/jdi.12620

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