Abstract：
:Gaucher's disease (GD) is an inherited metabolic disease due to lack of activity of the enzyme betaglucocerebrosidase. The diagnosis of GD is usually performed by fluorimetric analysis of the enzyme betaglucocerebrosidase. It can also be done by measuring the activity of tandem mass spectrometry. This enzyme can be analyzed in different samples such as leukocytes, fibroblasts, blood dried on paper and in case of prenatal diagnosis in chorionic villi or culture of amniocytes. Various biomarkers have been described for monitoring GD once diagnosed, to evaluate the response to potential treatments. Chitotriosidase activity is the most widely used biomarker for the assessment of GD, and for patients homozygous for the null CHIT1 gene variants, in general, is replaced by the analysis of the biomarker CCL18.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Gort L,Coll MJdoi
10.1016/S0025-7753(11)70011-2subject
Has Abstractpub_date
2011-09-01 00:00:00pages
12-6eissn
0025-7753issn
1578-8989pii
S0025-7753(11)70011-2journal_volume
137 Suppl 1pub_type
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