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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...
Gardado en:
| Publicado en: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Bioscientifica Ltd
2019
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6373619/ https://ncbi.nlm.nih.gov/pubmed/30753133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0120 |
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