Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report

Abstract Background Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a rare syndromic form of monogenic diabetes caused by bi-allelic loss of function mutations in IER3IP1. In vitro studies have shown that loss of IER31P leads to apoptosis in both neurons and pancreatic β-cells. Simultaneous...

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Главные авторы:	Walter A. Zegarra, William B. Gallentine, Maura R. Ruzhnikov, Catherine A. McAndrews, Anna L. Gloyn, Ananta Addala
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2023-09-01
Серии:	BMC Pediatrics
Предметы:	Ketogenic diet Infantile spasms Diabetic ketoacidosis Genetics Case report
Online-ссылка:	https://doi.org/10.1186/s12887-023-04272-y
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