Výsledky vyhledávání - "Maria Victoria Salguero Bermonth"

Inheritance of Mildly Activating ABCC8 Mutation From a Mother With MODY Causes Permanent Neonatal Diabetes Mellitus (NDM) in Two Siblings Who Also Carry a Second Inactivating Mutation: Genetic Testing Allows for Improved Treatment With Sulfonylureas (SU)

Autor: Lisa R. Letourneau-Freiberg, Nancy Devine, Maria Victoria Salguero Bermonth, Siri Atma W. Greeley

Publikováno v: Journal of the Endocrine Society

Background: Heterozygous activating mutations in KCNJ11 or ABCC8 are the most common cause of neonatal diabetes (NDM). ABCC8 (SUR1) mutations more often cause transient NDM. Inactivating ABCC8 mutations can cause congenital hyperinsulinism (HI), but

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8b8c37d21ef39ae06b91c9b9cb173b
https://doi.org/10.1210/jendso/bvab048.923

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