Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the K(ATP)-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH...

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書誌詳細
出版年:Ann Pediatr Endocrinol Metab
主要な著者: Mouron-Hryciuk, Julie, Stoppa-Vaucher, Sophie, Busiah, Kanetee, Bouthors, Thérèse, Antoniou, Maria Christina, Jacot, Eric, Brusgaard, Klaus, Christesen, Henrik Thybo, Hussain, Khalid, Dwyer, Andrew, Roth-Kleiner, Matthias, Hauschild, Michael
フォーマット: Artigo
言語:Inglês
出版事項: Korean Society of Pediatric Endocrinology 2021
主題:
Case Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8026340/
https://ncbi.nlm.nih.gov/pubmed/32871644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2040042.021
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