- Fabry's disease: a case report and review of literatures reported in Korea
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Lee SY, Kim SJ, Lee JI, Kim ES, Lee CH, Kim JH, Jeong HJ, Ha SK
- KMID: 711529
- Yonsei Med J.
- 1998 Feb;39(1):67-72.
- doi: 10.3349/ymj.1998.39.1.67
Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids... -
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- 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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