Saville, Jennifer T

Expanding the clinical utility of glucosylsphingosine for Gaucher disease. [electronic resource] - Journal of inherited metabolic disease 05 2020 - 558-563 p. digital

Publication Type: Journal Article

1573-2665

10.1002/jimd.12192 doi


Adolescent
Adult
Biomarkers--blood
Child
Child, Preschool
Chromatography, Liquid
Dried Blood Spot Testing--methods
Female
Gaucher Disease--blood
Humans
Infant
Infant, Newborn
Male
Mass Screening
Middle Aged
Pregnancy
Prenatal Diagnosis
Psychosine--analogs & derivatives
Tandem Mass Spectrometry
Young Adult
beta-Glucosidase--metabolism