Journal article

Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker

PJ Meikle, DA Brooks, EM Ravenscroft, M Yan, RE Williams, AE Jaunzems, TK Chataway, LE Karageorgos, RC Davey, CD Boulter, SR Carlsson, JJ Hopwood

Clinical Chemistry | AMER ASSOC CLINICAL CHEMISTRY | Published : 1997


Early diagnosis of lysosomal storage disorders (LSDs), before the onset of irreversible pathologies, will be a key factor in the development of effective therapies for many of these disorders. Newborn screening offers a potential mechanism for the early detection of these disorders. From studies of both normal and LSD-affected human skin fibroblasts we identified the lysosome-associated membrane protein LAMP-1 as a potential diagnostic marker. We have developed a sensitive method for the quantification of this protein with a time-resolved fluorescence immunoassay. A soluble form of LAMP-1 was observed in plasma samples, and determination of 152 unaffected individuals gave a median value of 3..

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University of Melbourne Researchers