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Syndromic ciliopathy: a taiwanese single-center study.
Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC. Pan YW, et al. Among authors: wang ch. BMC Med Genomics. 2024 Apr 26;17(1):106. doi: 10.1186/s12920-024-01880-0. BMC Med Genomics. 2024. PMID: 38671463 Free PMC article.
Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients.
Su PH, Yu JS, Wu YZ, Tsai YS, Lo FS, Lin JL, Chao MC, Hsu CC, Ke YY, Chiu PC, Chen JC, Huang YH, Lin SP, Chou YY, Ting WH, Wang SY, Chiu CF, Huang YC, Hsiao HP, Lin CH, Wang CH, Bau DT, Lin CY. Su PH, et al. Among authors: wang sy, wang ch. In Vivo. 2024 Jan-Feb;38(1):341-350. doi: 10.21873/invivo.13444. In Vivo. 2024. PMID: 38148081 Free PMC article.
Congenital generalized lipodystrophy in Taiwan.
Hsu RH, Lin WD, Chao MC, Hsiao HP, Wong SL, Chiu PC, Chu SY, Ke YY, Lau BH, Chien YH, Hwu WL, Tsai FJ, Wang CH, Lee NC. Hsu RH, et al. Among authors: wang ch. J Formos Med Assoc. 2019 Jan;118(1 Pt 1):142-147. doi: 10.1016/j.jfma.2018.02.003. Epub 2018 Mar 1. J Formos Med Assoc. 2019. PMID: 29478747 Free article.
Changing clinical manifestations of Gaucher disease in Taiwan.
Lu WL, Chien YH, Tsai FJ, Hwu WL, Chou YY, Chu SY, Li MJ, Lee AJ, Liao CC, Wang CH, Lee NC. Lu WL, et al. Among authors: wang ch. Orphanet J Rare Dis. 2023 Sep 15;18(1):293. doi: 10.1186/s13023-023-02895-z. Orphanet J Rare Dis. 2023. PMID: 37715271 Free PMC article.
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: wang ch. 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.
4,844 results