(Q33323654)

25 July 2017

1 reference

title

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease (English)

1 reference

25 July 2017

0 references

1 reference

Richard Sprenger

5

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Chris G. de Koster

Chris G de Koster

16

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Rolf G Boot

Rolf G Boot

6

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Dave Speijer

Dave Speijer

15

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Johannes Aerts

Johannes M Aerts

1

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author name string

Marielle J van Breemen

2

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25 July 2017

Anton P Bussink

3

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25 July 2017

Karen Ghauharali

4

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25 July 2017

Johanna E Groener

7

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25 July 2017

Carla E Hollak

8

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25 July 2017

Mario Maas

9

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25 July 2017

Suzanne Smit

10

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25 July 2017

Huub C Hoefsloot

11

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25 July 2017

Age K Smilde

12

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25 July 2017

Johannes Pc Vissers

13

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25 July 2017

Sheryas de Jong

14

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25 July 2017

language of work or name

English

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publication date

1 April 2008

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25 July 2017

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25 July 2017

volume

97

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25 July 2017

issue

457

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25 July 2017

page(s)

7-14

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Gaucher disease: complexity in a "simple" disorder

25 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Gaucher's disease: clinical features and natural history

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Plasma and metabolic abnormalities in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Novel therapeutic targets for the treatment of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Proteomic tools for quantitation by mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Modern strategies for protein quantification in proteome analysis: advantages and limitations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Mass spectrometry-based proteomics turns quantitative

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Absolute quantification of proteins by LCMSE: a virtue of parallel MS acquisition

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Coagulation abnormalities in type 1 Gaucher disease are due to low-grade activation and can be partly restored by enzyme supplementation therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2007.00641.X

10.1111/J.1651-2227.2007.00641.X

21 January 2018

Identifiers

DOI

1 reference

25 July 2017

1 reference