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