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Novel Perspectives of Super-High Dose Glybenclamide in an Infant With DEND Syndrome

Mutations in KCNJ11 gene cause a variety of persistent neonatal diabetes mellitus syndromes (PNDM), with and without developmental delay and epilepsy presentations (developmental delay, epilepsy, and neonatal diabetes - DEND Syndrome). We report a heterozygous mutation for pathogenic KCNJ11 missense...

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Detalles Bibliográficos
Autores principales: Barash, Galia, Bassan, Haim, Ayelet, Livne, Benyamini, Lilach, Heyman, Eli, Bowman, Pamela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089633/
http://dx.doi.org/10.1210/jendso/bvab048.925