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DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea
Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (K(ATP) channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on...
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| Vydáno v: | J Korean Med Sci |
|---|---|
| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Academy of Medical Sciences
2017
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5426229/ https://ncbi.nlm.nih.gov/pubmed/28480665 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2017.32.6.1042 |
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