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ABSTRACT: Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the lysosomal hydrolase, alpha-galactosidase A, for which enzyme replacement therapy is now available. Globotriaosylceramide measurement in urine samples may be used for the diagnosis and management of patients affected with Fabry disease and heterozygote women. The method by electrospray ionization tandem mass spectrometry, very accurate and specific, is described. double dagger.
Medecine sciences: M/S 01/2006; 21(11 Suppl):45-7. DOI:10.1051/medsci/20052111s45 · 0.67 Impact Factor