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小兒科部
  • 李忠霖醫師相片

    李忠霖

    兒童遺傳學科 ‧ 資深主治醫師

    小兒科 :
    台北門診掛號  淡水門診掛號

    李忠霖醫師本頁二維碼

  • 現職

      馬偕醫院淡水分院 ‧ 兒童遺傳學科 ‧ 主治醫師
       

    主要學歷

      長庚大學醫學系(2005-2012)
      陽明大學臨床醫學研究所博士班進修中(2019-)，博士學位候選人(2022)

    主要經歷

      【醫師經歷】

      馬偕兒童醫院 兒科住院醫師(2013-2018)
      馬偕兒童醫院 兒童遺傳科總醫師(2016-2018)
      新竹馬偕醫院兒童急救加護醫學科主治醫師(2018-2021)
      淡水馬偕醫院小兒遺傳科主治醫師(2021-)

       

      【學會及公會經歷】

      新北市醫師公會
      臺灣兒科醫學會
      台灣兒童急診醫學會
      中華民國人類遺傳學會

       

    其他相關

      【榮譽】

      2022臺灣兒科醫學會第 252 屆學術演講會［年輕研究者獎］

      2019馬偕紀念醫院小兒科部「優秀論文獎」
      2018馬偕紀念醫院小兒科部「優秀論文獎」

       【教職】

      馬偕醫學院醫學系兼任講師

      馬偕醫護管理專科學校護理系兼任講師

      【專科資格】

      教育部部定講師 (講字第153350號)

      中華民國小兒科專科醫師 (兒專醫字第004653號)
      中華民國兒科醫學遺傳學及新陳代謝學次專科醫師 (臺兒遺專醫字第064號)
      台灣兒童急診醫學次專科醫師 (兒急專證字第0098號)
      中華民國兒童急診醫學次專科醫師 (臺兒急專醫字第670號)

主治項目或專長

一般兒童內科、先天性遺傳及新陳代謝疾病、遺傳諮詢、罕見疾病、兒科急症

 


論文研究

  1. Chung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, Hung-Chang Lee, Ting-Chi Yeh, Li-Ching Fang, Ni-Chung Lee, Jeng-Daw Tsai, Shuan-Pei Lin (2024, Jul). Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Molecular Genetics & Genomic Medicine, 12(7):e2494. 本人為第一作者.
  2. Chung-Lin Lee , Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, YuanRong Tu, Yun-Ting Lo, Hsiang-Yu Lin *, Shuan-Pei Lin,** (2024, May). Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients. Frontiers in Genetics, 15:1365729. 本人為第一作者.
  3. Lee, Chung-Lin, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, and ShuanPei Lin. (2024, Apr). Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics, 14(8):846.. 本人為第一作者.
  4. Hsiang-Yu Lin, Chung-Lin Lee, Yuan-Rong Tu, Ya-Hui Chang, Dau-Ming Niu, Chia-Ying Chang, Pao Chin Chiu, Yen-Yin Chou, Hui-Pin Hsiao, Meng-Che Tsai, Mei-Chyn Chao, Li-Ping Tsai, Chia-Feng Yang, Pen-Hua Su, Yu-Wen Pan, Chen-Hao Lee, Tzu-Hung Chu, Chih-Kuang Chuang, Shuan-Pei Lin (2023, Oct). Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome. International Journal of Medical Sciences, 21(1):8-18.
  5. Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Lin HY, Lin SP (2023, Sep). 22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients. International Journal of Medical Sciences, 20(11):1377-1385. 本人為第一作者.
  6. Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP. (2022, Sep). Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. International journal of molecular sciences, 23(17), 9979.
  7. Syu, Yu-Min, Juine-Yih Ma, Tzu-Hsuen Ou, Chung-Lin Lee, Hsiang-Yu Lin,  Shuan-Pei Lin, Chia-Jung Lee, and Chih-Ping Chen. (2022, Sep). De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review. Diagnostics, 12(10):2306.
  8. Lee C-L, Chuang C-K, Syu Y-M, Chiu H-C, Tu Y-R, Lo Y-T, Chang Y-H, Lin H-Y, Lin S-P. (2022, Aug). Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.. Journal of Personalized Medicine, 12(8):1338.. 本人為第一作者.
  9. Syu, Y.-M.; Lee, C.-L.; Chuang, C.-K.; Chiu, H.-C.; Chang, Y.-H.; Lin, H.-Y.; Lin, S.-P. (2022, Jul). Functional Independence of Taiwanese Children with Osteogenesis Imperfecta. Journal of Personalized Medicine, 12(8):1205.
  10. Lin H-Y, Chang Y-H, Lee C-L, Tu Y-R, Lo Y-T, Hung P-W, Niu D-M, Liu M-Y, Liu H-Y, Chen H-J, Kao S-M, Wang L-Y, Ho H-J, Chuang C-K, Lin S-P. (2022, Jun). Newborn Screening Program for Mucopolysaccharidosis Type II and LongTerm Follow-Up of the Screen-Positive Subjects in Taiwan. Journal of Personalized Medicine, 12(7):1023.
  11. Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (2022, Jun). Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome. Children(MDPI), 9(6), 905.
  12. Chung-Lin Lee, Shan-Miao Lin, Ming-Ren Chen, Chih-Kuang Chuang, Yu-Min Syu, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (2022, May). Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. Journal of Personalized Medicine, 12(5):817-826. 本人為第一作者.
  13. Chung-Lin Lee, Chih-Kuang Chuang, Ru-Yi Tu, Huei-Ching Chiu, Yun-Ting Lo,Ya-Hui Chang, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin (2022, Jan). Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. medicina(MDPI), 58(1), 15. 本人為第一作者.
  14. Chung-Lin Lee, Shuan-Pei Lin, Dau-Ming Niu, Hsiang-Yu Lin (2022, Jan). Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and MetaAnalysis. International Journal of Medical Sciences, 19(1):126-131. 本人為第一作者.
  15. Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY. (2022, Jan). Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome. Drug Design, Development and Therapy, 16:143-154. 本人為第一作者.
  16. Lin H-Y, Lee C-L, Fran S, Tu R-Y, Chang Y-H, Niu D-M, Chang C-Y, Chiu P-C, Chou Y-Y, Hsiao H-P, Tsai M-C, Chao M-C, Tsai L-P, Yang C-F, Su P-H, Pan Y-W, Lee C-H, Chu T-H, Chuang C-K, Lin S-P. (2021, Nov). Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome. Journal of Personalized Medicine, 11(11):1197.
  17. Chung-Lin Lee,Chih-Kuang Chuang, Huei-Ching Chiu,Ru-Yi Tu ,Yun-Ting Lo,Ya-Hui Chang,Hsiang-Yu Lin and Shuan-Pei Lin (2021, Oct). Wiedemann– Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. Children, 8, 952. 本人為第一作者.
  18. Hsiang-Yu Lin,Chung-Lin Lee,Sisca Fran,Ru-Yi Tu,Ya-Hui Chang ,Dau-Ming Niu,Chia-Ying Chang,Pao Chin Chiu,Yen-Yin Chou ,Hui-Pin Hsiao,Chia-Feng Yang,Meng-Che Tsai,Tzu-Hung Chu ,Chih-Kuang Chuang,and Shuan-Pei Lin (2021, Oct). Quantitative DNA Methylation Analysis and EpigenotypePhenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. Journal of Personalized Medicine, 11, 1066.
  19. Chuang C-K, Lee C-L, Tu R-Y, Lo Y-T, Sisca F, Chang Y-H, Liu M-Y, Liu H-Y, Chen H-J, Kao S-M, Wang L-Y, Ho H-J, Lin H-Y, Lin S-P. (2021, Aug). Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the “Gold Standard” Criteria Required to Make a Confirmatory Diagnosis. Diagnostics, 11(9):1583.
  20. Chung-Lin Lee, Chih-Kuang Chuang, Chyong-Hsin Hsu, Huei-Ching Chiu, RuYi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (2021, Aug). The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. Journal of the Formosan Medical Association , S0929-6646(21)00355-7. 本人為第一作者.
  21. Chung-Lin Lee, Kuo-Sheng Lee, Chih-Kuang Chuang, Chin-Hui Su, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (2021, Jul). Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses. International Journal of Medical Sciences, 18(15): 3373-3379. 本人為第一作者.
  22. Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin (2021, May). The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature. Molecular Genetics and Metabolism Reports , 2021;27:100768. 本人為第一作者.
  23. Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin (2021, Feb). Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II. Orphanet Journal of Rare Diseases, 23;16(1):99.
  24. Chung-Lin Lee, Shih-Chia Liu, Chen-Yu Yang, Chih-Kuang Chuang, Hsiang-Yu Lin, Shuan-Pei Lin (2021, Jan). Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan. International Journal of Medical Sciences, 18(5):1240-1246. 本人為第一作者.
  25. Hsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, Shan-Miao Lin, Chung-Lieh Hung, Dau-Ming Niu, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin (2020, Dec). Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy. Diagnostics , 11(1):16.
  26. Hsiang-Yu Lin, Chung-Lin Lee, Chia-Ying Chang, Pao Chin Chiu, Yin-Hsiu Chien, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Mei-Chyn Chao, Tung-Ming Chang, Wen-Hui Tsai, Tzu-Jou Wang, Chih-Kuang Chuang, Shuan-Pei Lin (2020, Nov). Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). Orphanet Journal of Rare Diseases, 15(1):314.
  27. Chung-Lin Lee, Louis Tan Hock-Cheong Tan, Hsiang-Yu Lin , Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien, Chih-Kuang Chuang, Mei-Hwan Wu, Jou-Kou Wang, Shao-Yin Chu, Ju-Li Lin, Fu-Sung Lo, Pen-Hua Su, Chia-Chi Hsu, YuYuan Ko, Ming-Ren Chen, Hui-Ching Chiu, Shuan-Pei Lin (2020, Feb). Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American Journal of Medical Genetics Part A, 182(2):357-364. 本人為第一作者.
  28. Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ming-Ren Chen, Kuo-Tzu Sung, Shan-Miao Lin, Charles Jia-Yin Hou, Dau-Ming Niu, Tung-Ming Chang, Chung-Lieh Hung, Shuan-Pei Lin (2020, Jan). Cardiac Evaluation using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses. Diagnostics, 10(2):62.
  29. Hsiang-Yu Lin, Ru-Yi Tu, Schu-Rern Chern, Yun-Ting Lo, Sisca Fran, Fang-Jie Wei, Sung-Fa Huang, Shin-Yu Tsai, Ya-Hui Chang, Chung-Lin Lee, Shuan-Pei Lin, Chih-Kuang Chuang (2019, Dec). Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). International Journal of Molecular Science, 21(1):114.
  30. Hsiang-Yu Lin, Chung-Lin Lee, Chih-Kuang Chuang, Shuan-Pei Lin (2019, Oct). Long-term outcomes of enzyme replacement therapy for Taiwanese patients with Mucopolysaccharidosis I. Pediatrics & Neonatology, 60(5):577578.
  31. Hsiang-Yu Lin, Chung-Lin Lee, Pao Chin Chiu, Dau-Ming Niu, Fuu-Jen Tsai, Wuh-Liang Hwu, Shio Jean Lin, Ju-Li Lin, Tung-Ming Chang, Chih-Kuang Chuang, Shuan-Pei Lin (2019, Oct). Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses. Diagnostics, 9(4):148.
  32. Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Ru-Yi Tu, Ya-Hui Chang, Chia-Ying Chang, Pao Chin Chiu, Tung-Ming Chang, Wen-Hui Tsai, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin (2019, Oct). An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. Diagnostics, 9(4):140.
  33. Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, YenJiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin (2019, Aug). Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan. Pediatrics & Neonatology, 60(4):453-460. 本人為第一作者.
  34. Chung-Lin Lee, Hsiang-Yu Lin, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Wuh-Liang Hwu, Fuu-Jen Tsai, Pao-Chin Chiu, Dau-Ming Niu, Yann-Jang Chen, Mei-Chyn Chao, Tung-Ming Chang, Ju-Li Lin, Chia-Ying Chang, Yu-Chia Kao, Shuan-Pei Lin (2019, Aug). Functional independence of Taiwanese patients with mucopolysaccharidoses. Molecular Genetics & Genomic Medicine, 7(8):e790. 本人為第一作者.
  35. Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, Tuan-Jen Wang, Sung-Fa Huang, Tzu-Lin Chen, Yu-Shan Wang, Dau-Ming Niu, Chih-Kuang Chuang, Shuan-Pei Lin (2018, Nov). The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses. Molecular Genetics & Genomic Medicine, 6(6):982-992.
  36. Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Lin Lee, Ru-Yi Tu, Yun-Ting Lo, Pao Chin Chiu, Dau-Ming Niu, Yi-Ya Fang, Tzu-Lin Chen, Fuu-Jen Tsai, WuhLiang Hwu, Shio Jean Lin, Tung-Ming Chang, Shuan-Pei Lin (2018, Sep). Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. American Journal of Medical Genetics Part A, 176(9):1799-1809.
  37. Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu , Ru-Yi Tu, YouHsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin (2018, Jun). Functional independence of Taiwanese children with Prader-Willi syndrome. American Journal of Medical Genetics Part A , 176(6):1309-1314. 本人為第一作者.

【專書】

  1. 林翔宇、林炫沛等作（2020年12月）。黏多醣症醫療照護手冊 第二版（ISBN：986055140-5）（2）。衛生福利部國民健康署。
  2. 林翔宇、林炫沛等作（2017年11月）。黏多醣症醫療照護手冊（ISBN：986055140-5）（1）。衛生福利部國民健康署。