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. L'invention conc...

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Bibliographic Details
Main Authors SCHEIDEGGER, DANIEL, BEAUREGARD, CHRISTA, CHUANG, WEI-LIEN, ZHANG, XIAOKUI, K, ELBIN, CAROLE, S, PACHECO, JOSHUA, PICKERING, SHARON, KEUTZER, JOAN
Format Patent
LanguageEnglish
French
Published 31.07.2008
Subjects
HUMAN NECESSITIES
HYGIENE
MEDICAL OR VETERINARY SCIENCE
PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
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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. L'invention concerne des compositions permettant d'effectuer des analyses de l'activité enzymatique associée aux maladies lysosomales. L'invention porte en outre sur des procédés qui permettent de mesurer l'activité enzymatique, et sur des procédés qui permettent de dépister une maladie lysosomale chez un individu.
Bibliography:Application Number: WO2007US19861