Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C-Reference-Cited by-同舟云学术

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

Published:2006-07-27 Issue:5 Volume:29 Page:647-652
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Ries Markus,Schaefer Ellen,Lührs Till,Mani Latha,Kuhn Jana,Vanier Marie T.,Krummenauer Frank,Gal Andreas,Beck Michael,Mengel Eugen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-006-0363-3

Reference26 articles.

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2. Barone R, Simpore J, Malaguarnera L, Pignatelli S, Musumeci S (2003b) Plasma chitotriosidase activity in acute Plasmodium falciparum malaria. Clin Chim Acta 331: 79–85.

3. Barton NW, Brady RO, Dambrosia JM, et al (1991) Replacement therapy for inherited enzyme deficiency—macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464–1470.

4. Boot RG, Renkema GH, Strijland A, van Zonneveld AJ, Aerts JM (1995) Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages. J Biol Chem 270: 26252–26256.

5. Boot RG, Renkema GH, Verhoek M, et al (1998) The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem 273: 25680–25685.

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