نتایج جستجو برای: congenital hyperinsulinism

تعداد نتایج: 124753  

Journal: :The Journal of clinical investigation 2008
Sara E Pinney Courtney MacMullen Susan Becker Yu-Wen Lin Cheryl Hanna Paul Thornton Arupa Ganguly Show-Ling Shyng Charles A Stanley

Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic beta cell. Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported...

Journal: :The Journal of biological chemistry 2008
Diva D De León Changhong Li Madeleine I Delson Franz M Matschinsky Charles A Stanley Doris A Stoffers

Congenital hyperinsulinism is a disorder of pancreatic beta-cell function characterized by failure to suppress insulin secretion in the setting of hypoglycemia, resulting in brain damage or death if untreated. Loss-of-function mutations in the K(ATP) channel (composed of two subunits: Kir6.2 and SUR-1) are responsible for the most common and severe form of congenital hyperinsulinism. Most patie...

Journal: :The Journal of Clinical Endocrinology & Metabolism 2018

Journal: :The Journal of Clinical Endocrinology & Metabolism 2013

Journal: :The Journal of Clinical Endocrinology & Metabolism 2016

2013
Jean-Claude Henquin Christine Sempoux Joelle Marchandise Sebastien Godecharles Yves Guiot Myriam Nenquin Jacques Rahier

Congenital hyperinsulinism causes persistent hypoglycemia in neonates and infants. Most often, uncontrolled insulin secretion (IS) results from a lack of functional K(ATP) channels in all β-cells or only in β-cells within a resectable focal lesion. In more rare cases, without K(ATP) channel mutations, hyperfunctional islets are confined within few lobules, whereas hypofunctional islets are pres...

2016
Zeynep Şıklar Merih Berberoğlu

Congenital hyperinsulinism (CHI) is a rare disease characterized by dysregulated insulin secretion from pancreatic β-cells. Recurrent hypoglycemia can lead to neurological insult and permanent brain injury. Recently, there are important advances in understanding the genetic mechanisms, histological characteristics, imaging, and surgical techniques of congenital hyperinsulinemic hypoglycemia tha...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید