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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...
Autores principales: | Cho, Ja Hyang, Kang, Eungu, Lee, Beom Hee, Kim, Gu-Hwan, Choi, Jin-Ho, Yoo, Han-Wook |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229/ https://www.ncbi.nlm.nih.gov/pubmed/28480665 http://dx.doi.org/10.3346/jkms.2017.32.6.1042 |
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