X Kate Zhang
Affiliation: Genzyme Corporation
- Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometryX Kate Zhang
Genzyme Corporation, Framingham, MA 01701, USA
Clin Chem 54:1725-8. 2008..We modified the assay for high-throughput use in screening laboratories...
- The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymesCarole S Elbin
Genzyme Corporation, P O Box 9322, Framingham, MA 01701, United States
Clin Chim Acta 412:1207-12. 2011..The effect of DBS preparation, storage and shipping was evaluated on the activities of acid α-glucosidase, acid α-galactosidase, acid β-glucocerebrosidase, acid sphingomyelinase, and galactocerebrosidase...
- Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe diseaseWei Lien Chuang
Genzyme Corporation, Framingham, MA 01701 09322, United States
Clin Chim Acta 419:73-6. 2013..In addition, 6 other newborns were identified with very low galactosylcerebrosidase (GALC) activity. Because these patients remain asymptomatic, we investigated whether psychosine levels could be a useful marker for disease...
- Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometryX Kate Zhang
Genzyme Corporation, Framingham, MA, USA
Methods Mol Biol 603:339-50. 2010..The mixtures of the reaction products are prepared using liquid-liquid and solid-phase extractions and quantified simultaneously using selected ion monitoring on LC-MS-MS system...
- Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patientsWei Lien Chuang
Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701 9322, USA
Mol Genet Metab 111:209-11. 2014..Here, we show that the de-acylated form of sphingomyelin, lyso-SPM, is elevated approximately 5-fold in dried blood spots (DBS) from NPD-B patients and has no overlap with normal controls, making it a potentially useful biomarker. ..
- Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometryAngéla Dajnoki
Division of Biochemical and Paediatric Genetics, University Children s Hospital Vienna, Austria
Clin Chem 54:1624-9. 2008..We evaluated a tandem mass spectrometry (MS/MS) method to measure GAA activity for newborn screening for Pompe disease...