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Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Hsu MJ, Chang FP, Lu YH, Hung SC, Wang YC, Yang AH, Lee HJ, Sung SH, Wang YF, Yu WC, Hsu TR, Huang PH, Chang SK, Dzhagalov I, Hsu CL, Niu DM. Hsu MJ, et al. Among authors: lu yh. Genet Med. 2019 Jan;21(1):224-232. doi: 10.1038/s41436-018-0010-z. Epub 2018 Jun 6. Genet Med. 2019. PMID: 29875425 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: lu yh. 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.
839 results