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https://hdl.handle.net/2440/7131
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dc.contributor.author | Hua, C. | - |
dc.contributor.author | Hopwood, J. | - |
dc.contributor.author | Carlsson, S. | - |
dc.contributor.author | Harris, R. | - |
dc.contributor.author | Meikle, P. | - |
dc.date.issued | 1998 | - |
dc.identifier.citation | Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, 1998; 44(10):2094-2102 | - |
dc.identifier.issn | 0009-9147 | - |
dc.identifier.issn | 1530-8561 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7131 | - |
dc.description.abstract | For many lysosomal storage disorders, presymptomatic detection, before the onset of irreversible pathology, will greatly improve the efficacy of current and proposed therapies. In the absence of a family history, presymptomatic detection can be achieved only by a comprehensive newborn screening program. Recently we reported that the lysosome-associated membrane protein LAMP-1 was increased in the plasma from approximately 70% of individuals with lysosomal storage disorders. Here we report on the evaluation of a second lysosome-associated membrane protein, LAMP-2, as a marker for this group of disorders. The median concentration of LAMP-2 in the plasma of healthy individuals was 1.21 mg/L, fourfold higher than the median LAMP-1 concentration (0.31 mg/L). LAMP-2 was increased in >66% of patients with lysosomal storage disorders, and the increases coincided with increased LAMP-1 concentrations. The reference intervals for LAMP-1 and LAMP-2 in blood spots taken from newborns were 0.20-0.54 mg/L (n = 1600) and 0.95-3.06 mg/L (n = 1600), respectively. A high correlation was observed between the concentrations of LAMP-1 and LAMP-2 in both control and affected individuals. The higher concentrations of LAMP-2, relative to LAMP-1, in plasma make LAMP-2 an attractive marker; however, the final selection will be dependent on the availability of new diagnostic markers and their ability to detect disorders currently not identified by LAMP-2. | - |
dc.language.iso | en | - |
dc.publisher | AMER ASSOC CLINICAL CHEMISTRY | - |
dc.source.uri | http://dx.doi.org/10.1093/clinchem/44.10.2094 | - |
dc.subject | Lysosomes | - |
dc.subject | Humans | - |
dc.subject | Lysosomal Storage Diseases | - |
dc.subject | Membrane Glycoproteins | - |
dc.subject | Antigens, CD | - |
dc.subject | Immunoassay | - |
dc.subject | Blood Specimen Collection | - |
dc.subject | Electrophoresis, Polyacrylamide Gel | - |
dc.subject | Reference Values | - |
dc.subject | Adolescent | - |
dc.subject | Adult | - |
dc.subject | Aged | - |
dc.subject | Middle Aged | - |
dc.subject | Child | - |
dc.subject | Child, Preschool | - |
dc.subject | Infant | - |
dc.subject | Infant, Newborn | - |
dc.subject | Australia | - |
dc.subject | Lysosome-Associated Membrane Glycoproteins | - |
dc.subject | Biomarkers | - |
dc.title | Evaluation of the lysosome-associated membrane protein LAMP-2 as a marker for lysosomal storage disorders | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/clinchem/44.10.2094 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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