method of detecting a lysosomal storage disorder by assaying the level of an enzyme, protein or peptide associated with the disease

摘要

An ex-vivo or in vitro method of detecting a lysosomal storage disorder (LSD) monitoring the progress of LSD or the efficacy of treatment of an LSD in an human or animal subject comprising assaying the level of a LSD marker in a biological sample derived from the subject is claimed. The LSD marker is an enzyme, a polypeptide, a protein or an immunologically cross reactive biomolecule which is associated with the occurrence, development or onset of the LSD.