참고문헌 (19)

1. 10.1159/000060184 Desnick, R. J., Wasserstein, M. P. & Banikazemi, M. Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy. Contrib Nephrol 174-192 (2001). 

   

2. J Chromatogr B Analyt Technol Biomed Life Sci B. C. Nelson 805 127 2004 10.1016/j.jchromb.2004.02.032 Nelson, B. C. et al. Globotriaosylceramide isoform profiles in human plasma by liquid chromatographytandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 805:127-134 (2004). 

   상세보기

3. Ann Intern Med R. J. Desnick 138 338 2003 10.7326/0003-4819-138-4-200302180-00014 Desnick, R. J. et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138:338-346 (2003). 

   상세보기

4. Kidney Int B. L. Thurberg 62 1933 2010 10.1046/j.1523-1755.2002.00675.x Thurberg, B. L. et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933-1946 (2002). 

   상세보기

5. J Inherit Metab Dis C. Auray-Blais 30 106 2007 10.1007/s10545-006-0444-3 Auray-Blais, C., Cyr, D., Mills, K., Giguere, R. & Drouin, R. Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis 30:106 (2007). 

   상세보기

6. Mol Genet Metab C. Auray-Blais 93 331 2008 10.1016/j.ymgme.2007.10.001 Auray-Blais, C. et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93:331-340 (2008). 

   상세보기

7. J Inherit Metab Dis K. Mills 28 35 2005 10.1007/s10545-005-5263-4 Mills, K. et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 28:35-48 (2005). 

   상세보기

8. Am J Hum Genet M. Spada 79 31 2006 10.1086/504601 Spada, M. et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79:31-40 (2006). 

   상세보기

9. Nephrol Dial Transplant R. Schiffmann 21 345 2006 10.1093/ndt/gfi152 Schiffmann, R., Ries, M., Timmons, M., Flaherty, J. T. & Brady, R. O. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21:345-354 (2006). 

   상세보기

10. Eur J Clin Invest A. Mehta 34 236 2004 10.1111/j.1365-2362.2004.01309.x Mehta, A. et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34:236-242 (2004). 

    상세보기

11. Adv Nephrol Necker Hosp R. J. Desnick 31 317 2001 Desnick, R. J. & Wasserstein, M. P. Fabry disease: clinical features and recent advances in enzyme replacment therapy. Adv Nephrol Necker Hosp 31:317-339 (2001). 

12. Pediatr Nephrol M. E. Cho 19 583 2004 10.1007/s00467-004-1466-4 Cho, M. E. & Kopp, J. B. Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatr Nephrol 19:583-593 (2004). 

    상세보기

13. Genet Med C. M. Eng 8 539 2006 10.1097/01.gim.0000237866.70357.c6 Eng, C. M. et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8:539-548 (2006). 

    상세보기

14. Curr Opin Nephrol Hypertens D. G. Warnock 14 87 2005 10.1097/00041552-200503000-00002 Warnock, D. G. Fabry disease: diagnosis and management, with emphasis on the renal manifestations. Curr Opin Nephrol Hypertens 14:87-95 (2005). 

    상세보기

15. Clin Chem P. J. Meikle 43 1325 1997 10.1093/clinchem/43.8.1325 Meikle, P. J. et al. Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker. Clin Chem 43:1325-1335 (1997). 

    상세보기

16. Rapid Commun Mass Spectrom F. Boscaro 16 1507 2010 10.1002/rcm.728 Boscaro, F. et al. Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson-Fabry disease. Rapid Commun Mass Spectrom 16:1507-1514 (2002). 

    상세보기

17. Nippon Hoshasen Gijutsu Gakkai Zasshi R. Tanaka 58 665 2010 10.6009/jjrt.KJ00001364425 Tanaka, R., Sanada, S., Suzuki, M., Matsui, T. & Uoyama, Y. New method of screening chest radiography with computer analysis of respiratory kinetics. Nippon Hoshasen Gijutsu Gakkai Zasshi 58:665-669 (2002). 

    상세보기

18. Mol Genet Metab P. J. Meikle 88 307 2006 10.1016/j.ymgme.2006.02.013 Meikle, P. J. et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 88:307-314 (2006). 

    상세보기

19. Mol Genet Metab T. Kitagawa 85 196 2005 10.1016/j.ymgme.2005.01.007 Kitagawa, T. et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 85:196-202 (2005). 

    상세보기