Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea
![]() |
Kim, Jeong-Yup
(Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine)
Hyun, Young-Youl (Division of Nephrology, Department of Internal Medicine, Korea University College of Medicine) Lee, Ji-Eun (Division of Nephrology, Department of Internal Medicine, Wonkwang University College of Medicine) Yoon, Hye-Ran (Division of Pharmacy, Duksung Women's University) Kim, Gu-Hwan (Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center) Yoo, Han-Wook (Department of Pediatrics, Ulsan University College of Medicine) Cho, Seong-Tae (Western Dialysis Physician Association (WDPA)) Chun, No-Won (Western Dialysis Physician Association (WDPA)) Jeoung, Byoung-Chunn (Western Dialysis Physician Association (WDPA)) Kim, Hwa-Jung (Western Dialysis Physician Association (WDPA)) Kim, Keong-Wook (Western Dialysis Physician Association (WDPA)) Kim, Seong-Nam (Western Dialysis Physician Association (WDPA)) Kim, Yung-A (Western Dialysis Physician Association (WDPA)) Lee, Hyun-Ah (Western Dialysis Physician Association (WDPA)) Lee, Jong-Young (Western Dialysis Physician Association (WDPA)) Lee, Yung-Chun (Western Dialysis Physician Association (WDPA)) Lim, Hun-Kwan (Western Dialysis Physician Association (WDPA)) Oh, Keong-Sik (Western Dialysis Physician Association (WDPA)) Son, Seong-Hwan (Western Dialysis Physician Association (WDPA)) |
1 | Choi JH, Cho YM, Suh KS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008;23:243-250. DOI ScienceOn |
2 | Forni S, Fu X, Schiffmann R, Sweetman L. Falsely elevated urinary Gb3(globotriaosylceramide, CTH, GL3). Mol Genet Metab 2009;97:91. DOI ScienceOn |
3 | Kotanko P, Kramar R, Devrnja D, et al. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol 2004;15:1323-1329. DOI ScienceOn |
4 | Fuller M, Lovejoy M, Brooks DA, Harkin ML, Hopwood JJ, Meikle PJ. Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease. Clin Chem 2004;50:1979-1985. DOI ScienceOn |
5 | Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an underrecognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346. DOI ScienceOn |
6 | Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-192. DOI ScienceOn |
7 | Desnick RJ, Brady RO. Fabry disease in childhood. J Pediatr 2004;144(5 Suppl):S20-S26. DOI |
8 | Ginzburg L, Kacher Y, Futerman AH. The pathogenesis of glycosphingolipid storage disorders. Semin Cell Dev Biol 2004;15:417-431. DOI ScienceOn |
9 | Pastores GM, Lien YH. Biochemical and molecular genetic basis of Fabry disease. J Am Soc Nephrol 2002;13 Suppl 2:S130-133. |
10 | Nelson BC, Roddy T, Araghi S, et al. Globotriaosylceramide isoform profiles in human plasma by liquid chromatographytandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 2004;805:127-134. DOI ScienceOn |
11 | Mills K, Johnson A, Winchester B. Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 2002;515:171-176. DOI ScienceOn |
12 | Young E, Mills K, Morris P, et al. Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl 2005;94:51-54. DOI ScienceOn |
13 | Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-242. DOI ScienceOn |
14 | Yoon HR, Cho K, Yoo HW, et al. Determination of plasma C16- C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease. J Genet Med 2007;4:45-52. |
15 | Bekri S, Enica A, Ghafari T, et al. Fabry disease in patients with end-stage renal failure: the potential benefits of screening. Nephron Clin Pract 2005;101:c33-c38. DOI ScienceOn |
16 | Rodriguez-Mari A, Coll MJ, Chabas A. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female. Hum Mutat 2003;22:258. |
17 | Linthorst GE, Hollak CE, Korevaar JC, Van Manen JG, Aerts JM, Boeschoten EW. alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 2003;18:1581-1584. DOI ScienceOn |
18 | Tsakiris D, Simpson HK, Jones EH, et al. Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant 1996;11 Suppl 7:4-20. DOI |
19 | Thadhani R, Wolf M, West ML, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int 2002;61:249-255. DOI ScienceOn |
20 | Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-293. DOI ScienceOn |
21 | Nakao S, Kodama C, Takenaka T, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003;64:801-807. DOI ScienceOn |
22 | Brenner BM, Grünfeld JP. Renoprotection by enzyme replacement therapy. Curr Opin Nephrol Hypertens 2004;13:231-241. DOI ScienceOn |
23 | Meroni M, Spisni C, Tazzari S, et al. Isolated glomerular proteinuria as the only clinical manifestation of Fabry's disease in an adult male. Nephrol Dial Transplant 1997;12:221-223. DOI ScienceOn |
![]() |