Compositions and methods for detection of lysosomal storage disease

The present invention provides compositions for performing assays of enzyme activity associated with lysosomal storage diseases. The invention further provides methods for determining enzyme activity, and methods for the screening for lysosomal storage disease in an individual.

Saved in:
Bibliographic Details
Main Authors SCHEIDEGGER, DANIEL, BEAUREGARD, CHRISTA, CHUANG, WEI-LIEN, ZHANG, XIAOKUI, K, PACHECO, JOSHUA, PICKERING, SHARON, ELBIN, CAROLE S, KEUTZER, JOAN
Format Patent
LanguageEnglish
French
German
Published 26.06.2013
Subjects
HUMAN NECESSITIES
HYGIENE
MEDICAL OR VETERINARY SCIENCE
PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
Online AccessGet full text

Cover

More Information
Summary:The present invention provides compositions for performing assays of enzyme activity associated with lysosomal storage diseases. The invention further provides methods for determining enzyme activity, and methods for the screening for lysosomal storage disease in an individual.
Bibliography:Application Number: EP20120179447