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:	BEAUREGARD CHRISTA, ZHANG XIAOKUI K, KEUTZER JOAN, CHUANG WEI-LIEN, ELBIN CAROLE S, PIKERING SHARON, PACHECO JOSHUA, SCHEIDEGGER DANIEL
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS VINEGAR WINE
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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.