1. A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann–Pick disease type B presenting to a lipid disorders clinic. (September 2014) Authors: Grasko, Yael; Hooper, Amanda J; Burnett, John R; Watts, Gerald F Journal: Annals of clinical biochemistry Issue: Volume 51:Number 5(2014:Sep.) Page Start: 615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗