1. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro. Issue 1 (28th September 2020) Authors: Velasco, Kelly; St‐Louis, Johanna L.; Hovland, Henrikke N.; Thompson, Nels; Ottesen, Åsta; Choi, Man Hung; Pedersen, Line; Njølstad, Pål R.; Arnesen, Thomas; Fjeld, Karianne; Aukrust, Ingvild; Myklebust, Line M.; Molven, Anders Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗