- A Case of Fabry's Disease with Congenital Agammaglobulinemia
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Lee KY, Jeon SY, Hong JW, Kim SE, Song KH, Kim YH, Kim KH
- KMID: 1094273
- J Korean Med Sci.
- 2011 Jul;26(7):966-970.
- doi: 10.3346/jkms.2011.26.7.966
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the alpha-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide... -
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- Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea
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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
- KMID: 964723
- Korean J Intern Med.
- 2010 Dec;25(4):415-421.
- doi: 10.3904/kjim.2010.25.4.415
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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