The pharmacological chaperone 1-deoxygalactonojirimycin increases [alpha]-galactosidase A levels in Fabry patient cell lines

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (α-Gal A), with consequent accumulation of its major glycosphingolipid substrate, globotriaosylceramide (GL-3). Over 500 Fabry mutations have been reported; approximately 60% are missen...

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Veröffentlicht in:	Journal of inherited metabolic disease 2009-05, Vol.32 (3), p.424
Hauptverfasser:	Benjamin, E R, Flanagan, J J, Schilling, A, Chang, H H, Agarwal, L, Katz, E, Wu, X, Pine, C, Wustman, B, Desnick, R J, Lockhart, D J, Valenzano, K J
Format:	Artikel
Sprache:	eng
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