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Article

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

Blood cells, molecules & diseases - 1 Jan 2000

Rodrigues M R, Sá Miranda M C, Amaral O

Abstract excerpt

Chitotriosidase is a human chitinase produced by macrophages. Its enzymatic activity is markedly elevated in serum of patients suffering from lysosomal storage disorders, as well as other diseases in which macrophages are activated. Therefore, it is a useful tool as a secondary marker in the diagnosis of several disorders including Gaucher disease type 1 and Niemann-Pick disease. The determination of...

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Source

Identifiers

PMID: 15528158
DOI: 10.1016/j.bcmd.2004.07.005

Genes

CHIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.PMID 15528158Read ↗

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