A Novel KCNJ11 Mutation Associated with Congenital Hyperinsulinism Reduces the Intrinsic Open Probability of β-Cell ATP-sensitive Potassium Channels [PDF]
Yu-Wen Lin+4 more
openalex +1 more source
A Transfer Learning Causal Approach to Evaluate Racial/Ethnic and Geographic Variation in Outcomes Following Congenital Heart Surgery [PDF]
Congenital heart defects (CHD) are the most prevalent birth defects in the United States and surgical outcomes vary considerably across the country. The outcomes of treatment for CHD differ for specific patient subgroups, with non-Hispanic Black and Hispanic populations experiencing higher rates of mortality and morbidity.
arxiv
Serum Glucagon Counterregulatory Hormonal Response to Hypoglycemia Is Blunted in Congenital Hyperinsulinism [PDF]
Khalid Hussain+4 more
openalex +1 more source
The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism [PDF]
Irina Giurgea+12 more
openalex +1 more source
Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K+ Channels [PDF]
Fei-Fei Yan+5 more
openalex +1 more source
Destabilization of ATP-sensitive Potassium Channel Activity by Novel KCNJ11 Mutations Identified in Congenital Hyperinsulinism [PDF]
Yu-Wen Lin+7 more
openalex +1 more source
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant [PDF]
Ulrike Hennewig+8 more
openalex +1 more source
1100 Presentation, Clinical and Genetic Outcomes in a Series of Infants with Congenital Hyperinsulinism [PDF]
Áine Carroll+6 more
openalex +1 more source
The Heterogeneity of Focal Forms of Congenital Hyperinsulinism [PDF]
Dunia Ismail+8 more
openalex +1 more source