Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation

We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous parents presented on day 1 of life with hypoglycaemia. Hypoglycaemia screen c...

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Detalles Bibliográficos
Autores principales: Kiff, Sarah, Babb, Carolyn, Guemes, Maria, Dastamani, Antonia, Gilbert, Clare, Flanagan, Sarah E, Ellard, Sian, Barton, John, Dattani, M, Shah, Pratik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Unusual Effects of Medical Treatment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373619/
https://www.ncbi.nlm.nih.gov/pubmed/30753133
http://dx.doi.org/10.1530/EDM-18-0120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373619/
https://www.ncbi.nlm.nih.gov/pubmed/30753133
http://dx.doi.org/10.1530/EDM-18-0120

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