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Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, Huang CK, Liu HC, Hsu TR, Lin SP, Yang CF, Fann CS, Chiu PC, Hsieh KS, Fu YC, Ke YY, Lin CY, Tsai FJ, Wang CH, Chao MC, Yu WC, Chiang CC, Niu DM. Liao HC, et al. Among authors: yu wc. Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19. Clin Chim Acta. 2013. PMID: 24055776 Free article.
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).
Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM. Liu HC, et al. Among authors: yu wc. Orphanet J Rare Dis. 2014 Jul 22;9:111. doi: 10.1186/s13023-014-0111-y. Orphanet J Rare Dis. 2014. PMID: 25047006 Free PMC article.
Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.
Chien Y, Chien CS, Chiang HC, Huang WL, Chou SJ, Chang WC, Chang YL, Leu HB, Chen KH, Wang KL, Lai YH, Liu YY, Lu KH, Li HY, Sung YJ, Jong YJ, Chen YJ, Chen CH, Yu WC. Chien Y, et al. Among authors: yu wc. Oncotarget. 2016 Dec 27;7(52):87161-87179. doi: 10.18632/oncotarget.13552. Oncotarget. 2016. PMID: 27888626 Free PMC article.
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.
Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, Dzhagalov I, Yang CF, Chu TH, Lee HJ, Lu YH, Chang SK, Liao HC, Lin HY, Liao TC, Lee PC, Li HY, Yang AH, Ho HC, Chiang CC, Lin CY, Desnick RJ, Niu DM. Hsu TR, et al. Among authors: yu wc. J Am Coll Cardiol. 2016 Dec 13;68(23):2554-2563. doi: 10.1016/j.jacc.2016.09.943. J Am Coll Cardiol. 2016. PMID: 27931613 Free article.
502 results