(Q36591022)

English

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene

scientific article published on 13 October 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

1 reference

based on heuristic

inferred from title

Gaucher's disease

1 reference

based on heuristic

inferred from title

author name string

Talita E R Adelino

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Gustavo G Martins

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Aretta A A Gomes

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Adriana A Torres

4

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Daniel A S Silva

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Vinícius D O Xavier

6

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

João Paulo O Guimarães

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Sérgio S S Araújo

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Rachel A F Fernandes

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Maria Christina L A Oliveira

10

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ana Lúcia B Godard

11

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Eugênia R Valadares

12

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

publication date

13 October 2012

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Journal of Inherited Metabolic Disorders Reports

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

85-91

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Recommendations on diagnosis, treatment, and monitoring for Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Clinically relevant therapeutic endpoints in type I Gaucher disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Genetic polymorphisms in molecules of innate immunity and susceptibility to infection with Wuchereria bancrofti in South India

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

The human chitotriosidase gene. Nature of inherited enzyme deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

9 September 2017

Ceramide signalling and the immune response

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

30 September 2017

Chitotriosidase and gene therapy for fungal infections

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

28 June 2018

Chitotriosidase genotype and serum activity in subjects with combined hyperlipidemia: effect of the lipid-lowering agents, atorvastatin and bezafibrate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

28 June 2018

Strong induction of members of the chitinase family of proteins in atherosclerosis: chitotriosidase and human cartilage gp-39 expressed in lesion macrophages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

28 June 2018

Increased chitotriosidase activity in serum of leprosy patients: association with bacillary leprosy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Plasma chitotriosidase activity in multiple sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

High levels of human chitotriosidase hinder the formation of peritrophic membrane in anopheline vectors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Interferon-gamma, tumor necrosis factor-alpha, and lipopolysaccharide promote chitotriosidase gene expression in human macrophages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Effect of interferon-gamma, interleukin-10, lipopolysaccharide and tumor necrosis factor-alpha on chitotriosidase synthesis in human macrophages.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

THE METABOLISM OF GLUCOCEREBROSIDES. I. PURIFICATION AND PROPERTIES OF A GLUCOCEREBROSIDE-CLEAVING ENZYME FROM SPLEEN TISSUE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Serum chitotriosidase activity is increased in subjects with atherosclerosis disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

A practical approach to diagnosis and management of Gaucher's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565681

20 September 2018

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Serial chitotriosidase activity estimations in neonatal systemic candidiasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma Chitotriosidase Activity in Patients with β-Thalassemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation of three biochemical markers in the monitoring of Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Current and future biochemical markers for Gaucher disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Monitoring of Gaucher patients with a novel chitotriosidase assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[High cost drugs for rare diseases in Brazil: the case of lysosomal storage disorders]

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann–Pick diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/23430552

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/8904_2012_184

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

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