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Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

Kim JY, Hyun YY, Lee JE, Yoon HR, Kim GH, Yoo HW, Cho ST, Chun NW, Jeoung BC, Kim HJ, Kim KW, Kim SN, Kim YA, Lee HA, Lee JY, Lee YC, Lim HK, Oh KS, Son SH, Yu BH, Wee KS, Lee EJ, Lee YK, Noh JW, Kim SJ, Choi KB, Yu SH, Pyo HJ, Kwon YJ

BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients...
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