- 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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- A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease
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Chang YH, Hwang SK
- KMID: 2190760
- J Korean Neurosurg Soc.
- 2013 Mar;53(3):187-189.
- doi: 10.3340/jkns.2013.53.3.187
We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior... -
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- 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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- 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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- Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease
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Jang H, Joo KW, Han SS
- KMID: 2451875
- Kidney Res Clin Pract.
- 2019 Jun;38(2):250-252.
- doi: 10.23876/j.krcp.18.0156
No abstract available. -
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- A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease
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Chung WY, Kang MS
- KMID: 2366601
- Child Kidney Dis.
- 2016 Oct;20(2):79-82.
- doi: 10.3339/jkspn.2016.20.2.79
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within the lysosomes of various cell types.... -
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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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- 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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- Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy
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Kim WS, Kim HS, Shin J, Park JC, Yoo HW, Takenaka T, Tei C
- KMID: 2438311
- J Korean Med Sci.
- 2019 Feb;34(7):e63.
- doi: 10.3346/jkms.2019.34.e63
BACKGROUND: Fabry disease is an X-linked recessive disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A). Previous studies identified many cases of Fabry disease among men with... -
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- A case of fabry's disease with chronic renal failure effectively managed with CAPD
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Lee SH, Kim HS, Kim SK, Cho JW, Kim MC, Kim JJ, Lee KY, Shin SH, Lee HS
- KMID: 1694498
- Korean J Nephrol.
- 1993 Dec;12(4):690-697.
No abstract available. -
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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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- 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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- 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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- 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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- Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
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Cho SC, Yoo HW, Lee JW, Jang JY, Heo R, Song JM
- KMID: 2364651
- J Cardiovasc Ultrasound.
- 2016 Dec;24(4):324-328.
- doi: 10.4250/jcu.2016.24.4.324
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including... -
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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 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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- Ischemic Stroke in a Patient with Heterozygote Fabry's Disease
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Yang SW, Choi JC, Kim HW, Jeong JH, Hyun CL, Koh MJ
- KMID: 2435848
- J Korean Neurol Assoc.
- 2018 Nov;36(4):341-344.
- doi: 10.17340/jkna.2018.4.14
It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb... -
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- Sphingolipidoses
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Yoo HW
- KMID: 2168069
- Hanyang Med Rev.
- 2005 Aug;25(3):19-26.
Sphingolipidoses are a subgroup of lysosomal storage disorders. They are characterized by relentless progressive storage in affected organs and concomitant functional impairments. No overall screening procedure for these disorders is... -
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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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