Elevated plasma chitotriosidase activity in various lysosomal storage disorders
نویسندگان
چکیده
منابع مشابه
Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.
UNLABELLED A biomarker is an analyte that indicates the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. An ideal biomarker provides indirect but ongoing determinations of disease activity. In the case of lysosomal storage disorders (LSDs), metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers...
متن کاملChitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.
To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The aim of the study was to evaluate the possibility of using chitotriosidase activity as an addition...
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Lysosomal storage disorders (LSDs) are infrequent to rare conditions caused by mutations that lead to a disruption in the usual sequential degradation of macromolecules or their transit within the cell. Gaucher disease (GD), a lipidosis, is among the most common LSD, with an estimated incidence of 1 in 40,000 among the Caucasian, non-Jewish population. Studies have indicated an increased freque...
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ژورنال
عنوان ژورنال: Journal of Inherited Metabolic Disease
سال: 1995
ISSN: 0141-8955,1573-2665
DOI: 10.1007/bf02436762