Switching to Sulphonylureas in Children With iDEND Syndrome Caused by KCNJ11 Mutations Results in Improved Cerebellar Perfusion

OBJECTIVE: Activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the K(ATP) channel, result in permanent neonatal diabetes mellitus. They also may cause neurologic symptoms such as mental retardation and motor problems (iDEND syndrome) and epilepsy (DEND syndrome). Sulphonylurea (S...

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Detalhes bibliográficos
Main Authors: Fendler, Wojciech, Pietrzak, Iwona, Brereton, Melissa F., Lahmann, Carolina, Gadzicki, Mariusz, Bienkiewicz, Malgorzata, Drozdz, Izabela, Borowiec, Maciej, Malecki, Maciej T., Ashcroft, Frances M., Mlynarski, Wojciech M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Diabetes Association 2013
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3714477/
https://ncbi.nlm.nih.gov/pubmed/23462667
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc12-2166
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