Liquid Chromatography–Tandem Mass Spectrometry Quantification of Globotriaosylceramide in Plasma for Long-Term Monitoring of Fabry Patients Treated with Enzyme Replacement Therapy
Author:
Affiliation:
1. Clinical Laboratory Science, and
2. Protein Characterization & Modification, Genzyme Corporation, One Mountain Road, Framingham, MA 01701-9322
Publisher
Oxford University Press (OUP)
Subject
Biochemistry, medical,Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/51/1/237/32682156/clinchem0237.pdf
Reference21 articles.
1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. Scriver CR Beaudet AL Sly WS Valle D eds. The metabolic and molecular bases of inherited disease 8th ed 2001:3733-3774 McGraw-Hill New York. .
2. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med2003;138:338-346.
3. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, et al. Globotriaosylceramide accumlation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int2002;62:1933-1946.
4. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human α-galactosidase A: replacement therapy in Fabry’s disease. New Engl J Med2001;345:9-16.
5. Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet2003;4:403-436.
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