- Fabry Disease in a Family: Four Patients and Five Carriers
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Lee HG, Kim MJ, Choi CY, Tchah H
- KMID: 2110358
- J Korean Ophthalmol Soc.
- 2006 Sep;47(9):1496-1501.
PURPOSE: The purpose of this study is to report the genetic diagnosis of nine cases of Fabry in one family, either as carriers or patients. METHODS: We conducted analysis of the... -
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- Removal of Alpha-Gal Epitopes from Porcine Aortic Valve and Pericardium using Recombinant Human Alpha Galactosidase A
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Park S, Kim WH, Choi SY, Kim YJ
- KMID: 1783143
- J Korean Med Sci.
- 2009 Dec;24(6):1126-1131.
- doi: 10.3346/jkms.2009.24.6.1126
It has been reported that the immune response due to alpha-Gal epitopes is an important factor in tissue valve failure. The elimination of the interaction between the natural anti-Gal antibodies... -
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- A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
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Kim DH, Kim SY, Im M, Lee Y, Seo YJ, Lee JH
- KMID: 2265979
- Ann Dermatol.
- 2013 Feb;25(1):95-98.
- doi: 10.5021/ad.2013.25.1.95
A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of... -
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- Two Cases of Fabry Disease in Women with Proteinuria Diagnosed by Molecular Analysis of the alpha-Galactosidase A Gene and Kidney Biopsy
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Yoon KT, Jang YH, Lee SH, Lee JH, Yang JO, Lee EY, Hong SY
- KMID: 2268960
- Korean J Med.
- 2015 Nov;89(5):571-575.
- doi: 10.3904/kjm.2015.89.5.571
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, which results in the intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with progressive renal,... -
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- Histologic Characteristics and Mechanical Properties of Bovine Pericardium Treated with Decellularization and alpha-Galactosidase: A Comparative Study
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Min BJ, Kim YJ, Choi JW, Choi SY, Kim SH, Lim HG
- KMID: 1433610
- Korean J Thorac Cardiovasc Surg.
- 2012 Dec;45(6):368-379.
- doi: 10.5090/kjtcs.2012.45.6.368
BACKGROUND: Bioprostheses for cardiovascular surgery have limitations in their use following as calicification. alpha-galactosidase epitope is known as a stimulant of immune response and then shows a progressing calcification. The... -
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- Fabry disease previously diagnosed as Henoch-Schonlein purpura
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Kim JH, Han DH, Park MY, Choi SJ, Kim JK, Hwang SD, Jin SY
- KMID: 2381599
- Korean J Intern Med.
- 2015 Nov;30(6):925-927.
- doi: 10.3904/kjim.2015.30.6.925
No abstract available. -
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- A Case of Fabry Disease Diagnosed by Molecular Analysis of alpha-galactosidase A Gene
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Chin BS, Kim JI, Lee JS, Hong SW, Chung HJ, Kim HM, Kim DK, Goo YS, Lee HY
- KMID: 1989647
- Korean J Nephrol.
- 2002 Nov;21(6):1015-1019.
Fabry disease is a X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. This abnormality in enzyme results intracellular accumulation of globotriaosylceramide and leads to severe painful neuropathy with... -
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- A Case of Fabry Disease, Pathologically Revealed as Focal Segmental Glomerulosclerosis
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Joo HR, Sohn SH, Nam HK, An WS, Kim SE, Kim KH, Rha SH
- KMID: 2079754
- Korean J Nephrol.
- 2007 Jul;26(4):469-474.
Fabry disease is an X-linked recessive lysosomal storage disease that is caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. This deficiency results in progressive lysosomal accumulation of glycosphingolipid... -
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- Two cases of Fabry disease identified in brothers
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Cho JE, Hong YH, Lee YG, Yoo HW, Lee DH
- KMID: 2281372
- Korean J Pediatr.
- 2010 Feb;53(2):235-238.
- doi: 10.3345/kjp.2010.53.2.235
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the alpha-galactosidase A (GLA) enzyme. We report two cases of Fabry... -
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- Removal of alpha-Gal Epitopes in Aortic Valve and Pericardium ofPig Using Green Coffee Bean alpha-Galactosidase
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Park S, Kim WH, Kim KH, Lee CH, Choi SY, Lee C, Oh SS, Kim KC, Kim YJ
- KMID: 1987451
- Korean J Thorac Cardiovasc Surg.
- 2008 Feb;41(1):12-24.
BACKGROUND: It is currently thought that tissue valve degeneration is related to an animal's immune response, which is mainly due to cell surface alpha-Gal epitopes. Cell surface alpha-Gal epitopes are... -
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- 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 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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- 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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- Prevalence of Fabry Disease in Korean Female Patients with Left Ventricular Hypertrophy
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Yu TK, Kim WS, Kim J, Kim M, Woo JS, Ha SJ, Kim SY, Kim JB, Hong SP, Kim GH, Lee BH, Yoo HW, Bae JH, Kim KS
- KMID: 1750378
- J Korean Soc Hypertens.
- 2010 Dec;16(4):38-43.
BACKGROUND: The prevalence of Fabry disease was known to be 3-12% among the patients with left ventricular hypertrophy (LVH). Although Fabry disease is considered as X-linked recessive disorder, more and... -
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- Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
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Park KB, Han KR, Lee JW, Kim SH, Kim DW, Kim C, Ko JM
- KMID: 1767885
- Korean J Pain.
- 2010 Sep;23(3):207-210.
- doi: 10.3344/kjp.2010.23.3.207
Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease... -
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- Changes of the Structural and Biomechanical Properties of the Bovine Pericardium after the Removal of alpha-Gal Epitopes by Decellularization and alpha-Galactosidase Treatment
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Nam J, Choi SY, Sung SC, Lim HG, Park SS, Kim SH, Kim YJ
- KMID: 1433611
- Korean J Thorac Cardiovasc Surg.
- 2012 Dec;45(6):380-389.
- doi: 10.5090/kjtcs.2012.45.6.380
BACKGROUND: Bovine pericardium is one of the most widely used materials in bioprosthetic heart valves. Immunologic responses have been implicated as potential causes of limited durability of xenogenic valves. This... -
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- A Case of Fabry Cardiomyopathy
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Nah JC, Kim WS, Cho WH, Choi SK, Yoo HW, Takenaka T, Tei C
- KMID: 2225684
- Korean Circ J.
- 2009 Aug;39(8):335-339.
- doi: 10.4070/kcj.2009.39.8.335
In the absence of hypertension, hypertrophic cardiomyopathy is the most common cause of left ventricular hypertrophy (LVH). However, it has been reported that up to 3% of males with unexplained... -
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- Study on Effective Preservation of Bovine Pericardium Using Decellularization and alpha-galactosidase for Eliminating Xenoreactive Antigen
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Kim MS, Park CJ, Kim SH, Lim HG, Kim YJ
- KMID: 2063055
- Korean J Thorac Cardiovasc Surg.
- 2010 Dec;43(6):576-587.
BACKGROUND: Effective decellularization and fixation process is critical, in order to use xenogenic valves clinically. In the present study, we decellularized bovine pericardium using sodium dodecyl sulfate (SDS) and N-lauroyl... -
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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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- 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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