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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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| Publicado en: | J Diabetes Investig |
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| Autores principales: | , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | 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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