Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)

Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified. In such cases, insulin can be replaced by sulfonylurea with a successful metabolic control, as an example of how molecular diagnosi...

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Detalles Bibliográficos
Autores principales: Martins, Luísa, Lourenço, Rita, Maia, Ana Lúcia, Maciel, Paula, Monteiro, Maria Isabel, Pacheco, Lucinda, Anselmo, João, César, Rui, Gomes, Maria Fernanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614638/
https://www.ncbi.nlm.nih.gov/pubmed/26509005
http://dx.doi.org/10.1002/ccr3.328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614638/
https://www.ncbi.nlm.nih.gov/pubmed/26509005
http://dx.doi.org/10.1002/ccr3.328

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