Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9711-x
Reference46 articles.
1. Aerts JM, Hollak CE (1997) Plasma and metabolic abnormalities in Gaucher’s disease. Baillieres Clin Haematol 10(4):691–709
2. Aerts JM, Hollak CE, van Breemen M, Maas M, Groener JE, Boot RG (2005) Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr Suppl 94(447):43–46
3. Aerts JM, Kallemeijn WW, Wegdam W et al (2011) Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 34(3):605–619
4. Aguilera B, Ghauharali-van der Vlugt K, Helmond MT et al (2003) Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase. J Biol Chem 278(42):40911–40916
5. Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci U S A 87(5):1913–1916
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