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hrp0097p2-268 | Late Breaking | ESPE2023

Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

Demirbilek Huseyin , Nuri Ozbek M , Yıldız Melek , LA Houghton Jayne , Onal Hasan , Gurbuz Fatih , Cetinkaya Semra , Cayir Atilla , Denkboy-Ongen Yasemin , Parlak Mesut , Gurpınar Tosun Busra , Mert Erbas Ibrahim , Akinci Aysehan , Okdemir Deniz , Anik Ahmet , Direk-Trabzon Gul , Acar Sezer , Yildirim Ruken , Celebi-Bitkin Eda , Turan Hande , Aydin Murat , Keskin Mehmet , Kilinc Suna , Curek Yusuf , Turan Ihsan , Mengen Eda , Odabas Sevinc , Akin Onur , Ozalkak Servan , Vuralli Dogus , Atalay Ilknur , Uçar Ahmet , Yuksel Bilgin , Ellard Sian , Hussain Khalid , E Flanagan Sarah

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

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ESPE Abstracts

Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

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