1. PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only. Issue 10 (12th June 2021) Authors: Benner, Anne; Alhaidan, Yazeid; Lines, Matthew A.; Brusgaard, Klaus; De Leon, Diva D.; Sparkes, Rebecca; Frederiksen, Anja L.; Christesen, Henrik T. Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 2959 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗