Record link: 
http://hdl.handle.net/20.500.12708/193440
-
Title: 
Combined assay methodology for the analysis of enzyme activities and biomarker concentrations for Fabry, Gaucher, Krabbe, Niemann Pick types A/B, and Pompe disease
en
Citation: 
Hold, S., Mechtler, T., Schwarz, M., Rosenberg, E. E., & Kasper, D. (2023, February 22). Combined assay methodology for the analysis of enzyme activities and biomarker concentrations for Fabry, Gaucher, Krabbe, Niemann Pick types A/B, and Pompe disease [Poster Presentation]. 19th Annual WORLDSymposium 2023, Orlando, United States of America (the).
-
Publication Type: 
Presentation - Poster Presentation
en
Language: 
English
-
Authors: 
Hold, Stephan 
Mechtler, Thomas 
Schwarz, Markus 
Rosenberg, Egon Erwin 
Kasper, David 
-
Organisational Unit: 
E164-01-2 - Forschungsgruppe Oberflächen-, Spurenanalytik und Chemometrie 
-
Date (published): 
22-Feb-2023
-
Event name: 
19th Annual WORLDSymposium 2023 
-
Event date: 
22-Feb-2023 - 26-Feb-2023
-
Event place: 
Orlando, United States of America (the)
-
Keywords: 
lysosomal storage diseases; LC/MS/MS
en
Abstract: 
To overcome major limitations of the FIA-MS/MS approach used for diagnostics and newborn screening (NBS) for lysosomal storage disorders (LSDs), a combined UHPLC - MS/MS based assay has been developed by utilizing dried blood spots and an Analytical Quality by Design approach. The assay is capable to additionally provide the concentrations of three corresponding biomarkers of five LSDs covered by the NeoLSD Kit (Perkin Elmer). The assay utilizes just a short (4 hours) incubation period, only needs simple precipitation steps and is able to quantify lyso- Gb3, lyso-Gb1/Psychosine and lyso-SM simultaneously in an injection-to- injection time of ~3.2min. The assay has been technical validated and a pre-pilot comparison study with 500 DBS was conducted
en
Research Areas: 
Beyond TUW-research foci: 100%
-
Science Branch: 
1040 - Chemie: 50%
1060 - Biologie: 30%
3013 - Medizinische Biochemie, Humangenetik: 20%
-
Appears in Collections:
Presentation

Show full item record

Google ScholarTM

Check