Ontology highlight
ABSTRACT:
SUBMITTER: Johnson B
PROVIDER: S-EPMC3698306 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Johnson Britt B Mascher Hermann H Mascher Daniel D Legnini Elisa E Hung Christina Y CY Dajnoki Angela A Chien Yin-Hsiu YH Maródi László L Hwu Wuh-Liang WL Bodamer Olaf A OA
Annals of laboratory medicine 20130624 4
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD. Lyso-Gb3 concentrations were analyzed in DBS following extraction using a novel HPLC-mass spectrometry (MS)/MS method. Lyso-Gb3 levels in DBS were above the lower li ...[more]