Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
Amy C YangLouise E BierJessica R OverbeyJessica Cohen-PfefferKhyati DesaiRobert J DesnickManisha BalwaniPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Most children with the p.N409S/p.N409S and p.N409S/p.R535H GD1 genotypes have minimal disease manifestations and progression during childhood and can be monitored using limited assessments. Those with other mutations may require additional monitoring. These data are valuable for newborn screening and counseling.Genet Med advance online publication 13 October 2016.