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國際罕見疾病中心

塗元榕

國際罕見疾病中心 專任研究助理

  • 現職

    馬偕紀念醫院 國際罕見疾病中心 專任研究助理

  • 主要學歷

    國立海洋大學 水產養殖學系 學士

    國立陽明大學 生化暨分子生物學系 碩士

    主要經歷

    馬偕紀念醫院 林翔宇醫師院內計畫-研究助理

    馬偕紀念醫院 林翔宇醫師科技部計畫-研究助理

執行項目或專長

MAJOR SERVICE

罕見疾病相關之基因檢測

論文研究

C.K. Chuang, Y.R. Tu, C.L. Lee, Y.T. Lo, Y.H. Chang, M.Y. Liu, H.Y. Liu, H.J. Chen, S.M. Kao, L.Y. Wang, H.J. Ho, H.Y. Lin, S.P. Lin, Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants, Int J Mol Sci 23(17) (2022).

 

Lin HY, Tu RY, Chern SR, Lo YT, Fran S, Wei FJ, Huang SF, Tsai SY, Chang YH, Lee CL, Lin SP*, Chuang CK*. Identification and functional characterization of IDS gene mutations underlying Taiwanese Hunter Syndrome (mucopolysaccharidosis type II). Int. J. Mol. Sci. 2020, 21, 114.

 

Lin HY, Chuang CK, Lee CL, Tu RY, Lo YT, Chiu PC, Niu DM, Fang YY, Chen TL,Tsai FJ, Hwu WL, Lin SJ, Chang TM, Lin SP. Mucopolysaccharidosis III in Taiwan:Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. Am J Med Genet A. 2018 Sep;176(9):1799-1809.

 

Chuang CK, Lin HY, Wang TJ, Huang YH, Chan MJ, Liao HC, Lo YT, Wang LY, Tu RY, Fang YY, Chen TL, Ho HC, Chiang CC, Lin SP. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan. Orphanet J Rare Dis. 2018 May 25;13(1):84.

 

Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, Chien YH, Lee NC, Niu DM,Chao MC, Tsai FJ, Chou YY, Chuang CK, Lin SP. Functional independence of Taiwanese children with Prader-Willi syndrome. Am J Med Genet A. 2018 Jun;176(6):1309-1314.

 

Lin HY, Chuang CK, Tu RY, Fang YY, Su YN, Chen CP, Chang CY, Liu HC, Chu TH, Niu DM, Lin SP. Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome. Mol Genet Metab. 2016 Sep;119(1-2):8-13.

 

Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP. Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. Orphanet J Rare Dis. 2016 Jun 27;11(1):85.

 

Lin HY, Chuang CK, Chen YJ, Tu RY, Chen MR, Niu DM, Lin SP. Functional independence of Taiwanese children with Down syndrome. Dev Med Child Neurol. 2016 May;58(5):502-7.

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