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Article

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.

Ukrainian biochemical journal - 1 Jan 2000

Olkhovych N V

Abstract excerpt

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 additional biomarker in...

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Source

Identifiers

PMID: 29227082
DOI: 10.15407/ubj88.01.069

Genes

CHIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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