- Fabry Cardiomyopathy
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Yoon JY, Song JH, Cheon SS, Cho HJ, Bae MH, Lee JH, Yang DH, Park HS, Cho Y, Chae SC
- KMID: 1428374
- J Cardiovasc Ultrasound.
- 2013 Mar;21(1):26-29.
- doi: 10.4250/jcu.2013.21.1.26
Fabry disease is a progressive X-linked disorder of glycosphingolipid metabolism caused by a deficiency of the alpha-galactosidase lysosomal enzyme. The partial or complete deficiency of the lysosomal enzyme leads to... -
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- A Case of Renal Transplantation in A Patient with Fabry's Disease
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Kim W, Koh HW, Park SK, Kang SK, Rhee SR, Yu HC, Cho BH, Kim MC, Lee KY
- KMID: 2324256
- J Korean Soc Transplant.
- 1998 Jun;12(1):111-116.
Fabry's disease is a rare, inborn error, sex-linked disorder of glycosphingolipid metabolism with death occurring from myocardial or renal involvement at 4th or 5th decades. The primary metabolic defect lies... -
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- A Case of Fabry Disease, Following Renal Biopsy for the Investigation of Proteinuria
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Ok JU, Choi KH, Oh J, Kwon KH, Yang DH, Kim KS, Lee YH
- KMID: 2079211
- Korean J Nephrol.
- 2001 Nov;20(6):1053-1057.
Fabry disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive deposition of... -
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- A Novel Mutation in Exon 6 in a Patient with Fabry's Disease
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Kim JH, Lee JK, Yim SB, Khang SK, Kim KK
- KMID: 2066191
- J Korean Neurol Assoc.
- 1999 Sep;17(5):730-734.
Fabry's disease, angiokeratoma corporis diffusum, is a rare X-linked inborn error of glycosphingolipid metabolism due to the lack of the lysosomal enzyme, alpha-galactosidase A, resulting in a progressive intracellular deposition... -
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