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publicationDate 2014-12-11-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2014197859-A1
titleOfInvention Marker for acid sphingomyelinase disorders and uses thereof
abstract The present disclosure provides methods of screening, diagnosing, monitoring and/or treating acid sphingomyelinase (ASM) disorders such as Niemann-Pick disease. In particular, the methods encompass techniques for improved diagnosis and/or treatment of an ASM disorder, for example using enzyme replacement therapy.
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