(Q34623578)

3 August 2017

title

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

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3 August 2017

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5

Robert J Desnick

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3 August 2017

Marie E Grace

1

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3 August 2017

Manisha Balwani

series ordinal

2

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3 August 2017

Irina Nazarenko

series ordinal

3

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3 August 2017

Ainu Prakash-Cheng

series ordinal

4

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3 August 2017

publication date

1 September 2007

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3 August 2017

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3 August 2017

volume

28

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3 August 2017

issue

9

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3 August 2017

page(s)

866-873

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Plasma and metabolic abnormalities in Gaucher's disease.

3 August 2017

cites work

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https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease.

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7 January 2021

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

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7 January 2021

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

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7 January 2021

The clinical course of treated and untreated Gaucher disease. A study of 45 patients

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7 January 2021

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

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7 January 2021

The human chitotriosidase gene. Nature of inherited enzyme deficiency

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7 January 2021

Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

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7 January 2021

Enzyme replacement for lysosomal diseases

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7 January 2021

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

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7 January 2021

Gaucher's disease: clinical features and natural history

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https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis

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7 January 2021

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

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https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

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7 January 2021

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

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7 January 2021

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

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7 January 2021

Clinically relevant therapeutic endpoints in type I Gaucher disease.

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7 January 2021

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.

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7 January 2021

The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update

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7 January 2021

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

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7 January 2021

Plasma level of the macrophage-derived soluble CD163 is increased and positively correlates with severity in Gaucher's disease.

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7 January 2021

Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins

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7 January 2021

Chitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages

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https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetic background of people in the Dominican Republic with or without obese type 2 diabetes revealed by mitochondrial DNA polymorphism

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Sequence information for the splicing of human pre-mRNA identified by support vector machine classification

1 reference

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7 January 2021

Prenatal genetic screening in the Ashkenazi Jewish population

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https://api.crossref.org/works/10.1002%2FHUMU.20524

7 January 2021

Identifiers

DOI

10.1002/HUMU.20524

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3 August 2017

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