Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers).

Haematologica - 1 Sept 2001

Giraldo P, Cenarro A, Alfonso P, Pérez-Calvo J I, Rubio-Félix D, Giralt M, Pocoví M

Abstract excerpt

BACKGROUND AND OBJECTIVES: Chitinases are enzymes that hydolyze chitin and have been found in a wide variety of nonvertebrate species; recently an human analogue of chitinases, chitotriosidase (CT) has been identified. Extreme elevations of plasma CT activity are observed in patients with Gaucher disease (GD), being Gaucher cells the source of the CT. It has been reported a 24 bp duplication in CT gene that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gaucher Disease

Share to Gene Frequency

Share to Genetic Testing

Share to Hexosaminidases

Share to Infant

Source

Identifiers

PMID: 11532627

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Chitotriosidase genotype and plasma activity in patients type 1 Gaucher's disease and their relatives (carriers and non carriers).PMID 11532627Read ↗

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.Semantic proximity Read ↗

Monitoring of Gaucher patients with a novel chitotriosidase assay.Semantic proximity Read ↗

Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight.Semantic proximity Read ↗

Allelic Frequency of a 24-bp Duplication in Exon 10 of the CHIT1 Gene in the General Iranian Population.Semantic proximity Read ↗

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

[Effect of enzyme replacement therapy on lipid profile in patients with Gaucher's disease].Semantic proximity Read ↗

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates.Semantic proximity Read ↗

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.Semantic proximity Read ↗

Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.Semantic proximity Read ↗

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.Semantic proximity Read ↗

Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.Semantic proximity Read ↗

Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.