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Article

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine

11 Jan 2013

Abstract excerpt

BACKGROUND AND OBJECTIVES: Previous reports of Fabry disease screening in dialysis patients indicate that α-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required. Elevated plasma globotriaosylsphingosine is reported to be a hallmark of classic Fabry disease. The purpose of this study was to examine the...

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PMID: 23307880
DOI: 10.2215/cjn.08780812

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