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.

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Bibliographische Detailangaben
Hauptverfasser:	PACHECO, Joshua, ELBIN, Carole S, CHUANG, Wei-Lien, SCHEIDEGGER, Daniel, BEAUREGARD, Christa, ZHANG, Xiaokui K, PICKERING, Sharon, KEUTZER, Joan
Format:	Patent
Sprache:	eng ; fre ; ger
Schlagworte:	HUMAN NECESSITIES HYGIENE MEDICAL OR VETERINARY SCIENCE PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
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Beschreibung
Zusammenfassung:	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.