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國際罕見疾病中心

  • 林翔宇醫師相片

    林翔宇

    國際罕見疾病中心主任暨兒童遺傳學科主任

    小兒科 :
    台北門診掛號  

    林翔宇醫師本頁二維碼

  • 現職

      • 馬偕紀念醫院國際罕見疾病中心主任
      • 馬偕兒童醫院兒童遺傳學科主任
      • 馬偕兒童醫院醫學研究室主任
      • 馬偕醫學院醫學系部定教授
      • 馬偕醫護管理專科學校部定教授
      • 中華民國人類遺傳學會秘書長
      • 臺灣兒科醫學會「醫學遺傳學/新陳代謝學委員會」幹事
      • 行政院衛生署國民健康局「罕見疾病及藥物審議委員會」醫師級專家審查小組評審委員

    主要學歷

      • 國立陽明大學臨床醫學研究所 博士
      • 臺北醫學大學醫學系 醫學士

    主要經歷

      • 美國俄亥俄州立大學(Ohio State University)醫學中心進修基礎醫學
      • 臺灣兒科醫學會「兒科最前線」雜誌 (Frontline Pediatrics)編輯委員

    其他相關

      專科資格

      • 教育部部定教授 (教字第145433號)
      • 中華民國小兒科專科醫師 (兒專醫字第003064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045號)
      • 中華民國兒童急診醫學次專科醫師 (臺兒急專醫字第00546號)
      • 中華民國公職醫師高等考試及格 [(87)公高字第1169號]
      • 中華民國醫用超音波學會「兒科超音波專業醫師」(中超專業證字第eP-000202號)

      醫學期刊編輯與審稿委員

      • “Circulation”：2011年審稿委員。
      • “Molecular Genetics and Metabolism”：2013年審稿委員。
      • “The Open Access Journal of Science and Technology”：自2014年起擔任編輯與審稿委員。
      • “Pediatrics and Neonatology”：2007-2019年審稿委員。
      • “Quality of Life Research”：2015年審稿委員。
      • “Clinical Genetics”：2016年審稿委員。

      專門著作

      (1) 林翔宇、林炫沛等作（2017年11月）。黏多醣症醫療照護手冊（ISBN：978-986-05-5140-2）（初版）。台灣台北：衛生福利部國民健康署。本團隊榮獲衛生福利部國民健康署補助辦理「106年第2次罕見疾病防治工作補助計畫」「黏多醣症患者的垂直整合確診暨全人醫療照護模式」，編製黏多醣症醫療照護手冊，以期增進黏多醣症醫療人員、病患、以及家屬相關之醫療照護能力。

      (2) Mucopolysaccharidoses Update (2 Volume Set). 2018. Editors: Shunji Tomatsu, MD, PhD, Christine Lavery, MBE, Roberto Giugliani, MD, PhD, Paul Harmatz, MD, Maurizio Scarpa, MD, PhD, Grzegorz Węgrzyn, PhD and Tadao Orii, MD. Chapter 32. Newborn Screening of Mucopolysaccharidoses: Comparison of the Fluorometric Technique and Tandem Mass Spectrometry for Enzyme Assay (Chih-Kuang Chuang, PhD, Hsuan-Chieh Liao, PhD, Hsiang-Yu Lin, MD, PhD, Chuan-Chi Chiang, PhD, and Shuan-Pei Lin, MD, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan).

      (3)  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：978-986-05-5140-2）（第二版）。台灣台北：衛生福利部國民健康署。衛生福利部：109。本團隊榮獲衛生福利部國民健康署補助辦理「109-111年罕見疾病照護服務計畫」，編製黏多醣症醫療照護手冊第二版，以期增進黏多醣症醫療人員、病患、以及家屬相關之醫療照護能力。

       

       

      榮譽

      • 2001、2002馬偕紀念醫院小兒科部「住院醫師病歷書寫優良獎」
      • 2005、2006及2007馬偕紀念醫院小兒科部「優秀論文獎」
      • 2007臺灣兒科醫學會「Mead Johnson旅行獎」
      • 2008中華民國臺灣黏多醣症協會「周艾紀念醫療照護獎」
      • 2009國科會「研究人才培育計畫」獎助「補助博士生赴國外研究」
      • 2010財團法人罕見疾病基金會第十一屆「罕見疾病博碩士論文獎助學金」博士生組
      • 2011、2012國立陽明大學研究生優秀論文發表獎助學金
      • 2012臺灣兒科醫學會第210屆學術演講會「年輕研究者獎」
      • 2012財團法人陳烱霖小兒科研究獎助金基金會「小兒科主治醫師優秀論文獎」
      • 2012臺灣兒科醫學會第212屆學術演講會「優等年輕研究報告者獎」
      • 2013馬偕紀念醫院醫學研究部「諾華醫學研究優秀論文獎」
      • 2013馬偕紀念醫院醫學教育部「PGY優良教師」
      • 2015 財團法人思源內科醫學研究發展基金會「103年度內科系醫學領域最佳論文獎第一名」
      • 2017第12屆亞太人類遺傳學會「陳垣崇院士年輕科學家研究論文旅行獎（Chen Travel Award, APCHG 2017）」
      • 2017、2018衛生福利部國民健康署「罕見疾病防治工作補助計畫」計畫主持人
      • 榮獲2018年第21屆「國家生技醫療品質獎－銀獎」的重大肯定，並通過「2018 SNQ國家品質標章認證」-本團隊代表馬偕紀念醫院參與「2018 SNQ國家品質標章認證-醫院特色醫療組」，主題為：「罕見疾病之跨領域全人醫療照護－建立一個世界級的黏多醣症醫療照護模式」。
      • 2018 榮獲「嬰兒與母親雜誌」票選為「2018小兒科好醫師」。
      • 2019 榮獲衛生福利部國民健康署「108年罕見疾病防治工作貢獻獎」
      • 2019 以「黏多醣症醫療照護手冊」榮獲：2019年台北市醫師公會「第四屆好書獎」
      • 2020 榮任衛生福利部國民健康署「109-111年罕見疾病照護服務計畫」計畫主持人
      • 2013-2024 科技部「專題研究計畫」計畫主持人
      • 2005-2022 馬偕紀念醫院醫師專業學術論文發表獎勵
      • 2022 榮登 2023 Stanford University’s Top 2% Scientists (Single Year) List［2023年全球前 2% 醫師科學家］榮譽榜
      • 2023 榮任衛生福利部國民健康署「112-114年罕見疾病照護服務計畫」計畫主持人
      • 榮獲［考試院］聘［中華民國111年專門職業及技術人員高等考試］命題委員
      • 2021年 受邀榮任 Journal of Personalized Medicine (Impact factor: 4.945) special Issue "Personalized Medicine in Rare Disease" 之 Guest Editor (ISSN 2075-4426）
      • 2022年 受邀榮任 Genes (ISSN 2073-4425) (Impact factor: 4.141) Special Issue "Lysosomal Diseases: Genetic Bases, Diagnosis, and Therapy" 之 Guest Editor
      • 2018-2023年 榮任〔國科會專題研究計畫審查委員〕
      • 榮獲2023年第26屆「國家生技醫療品質獎－銅獎」的重大肯定，並通過「2023 SNQ國家品質標章認證」-本團隊代表馬偕兒童醫院參與「2023 SNQ國家品質標章認證-醫院特色醫療組」，主題為：「罕見疾病-黏多醣症之全人醫療：建立一個獨步全球的新生兒篩檢、早期治療與長期追蹤照護模式」。
      • 榮獲2023 年（第二十四屆）NHQA 國家醫療品質獎〔傑出醫療類〕競賽〔金獎〕。主題為：「罕見疾病之全人醫療：首創世界級的黏多醣症多學科與跨領域的整合醫療照護模式」。

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,醫學研究論文寫作,表觀遺傳學


論文研究

林翔宇醫師的醫學研究論文著作

  1. ​​​​​​Hsiang-Yu Lin, Chuang CK, Lee HC, Chiu NC, Lin SP, Yeung CY. A seroepidemiologic study of Helicobacter pylori and hepatitis A virus infection in primary school students in Taipei. J Microbiol Immunol Infect. 2005;38:176-82. (SCI)
  2. Hsiang-Yu Lin, Lin SP, Chuang CK, Chen MR, Chen BF, Wraith JE. Mucopolysaccharidosis under enzyme replacement therapy with laronidase-A mortality case with autopsy report. J Inherit Metab Dis. 2005;28:1146-8. (SCI)
  3. Hsiang-Yu Lin, Chen CS, Lin SP, Weng JR, Chen CS. Targeting histone deacetylase in cancer therapy. Med Res Rev. 2006;26:397-413. (SCI)
  4. Hsiang-Yu Lin, Lin SP, Chen YJ, Hung HY, Kao HA, Hsu CH, Chen MR, Chang JH, Ho CS, Huang FY, Shyur SD, Lin DS, Lee HC. Clinical Characteristics and Survival of Trisomy 18 in a Medical Center in Taipei, 1988-2004. Am J Med Genet A. 2006;140:945-51. (SCI)
  5. Hsiang-Yu Lin, Lin SP, Chuang CK, Wraith JE. Enzyme Replacement Therapy with Imiglucerase in a Taiwanese Child with Type I Gaucher Disease. J Chin Med Assoc. 2006;69:228-32. (SCI)
  6. Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Hsiang-Yu Lin, Chuang CK. Detection of Hunter Syndrome (mucopolysaccharidosis type II) in Taiwanese: Biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. Clin Chim Acta. 2006;369:29-34. (SCI)
  7. Hsiang-Yu Lin, Lin SP, Yen JL, Lee YJ, Huang CY, Hung HY, Hsu CH, Kao HA, Chang JH, Chiu NC, Ho CS, Chao MC, Niu DM, Tsai LP, Kuo PL. Prader-Willi Syndrome in Taiwan. Pediatr Int. 2007;49:375-9. (SCI)
  8. Hsiang-Yu Lin, Lin SP, Chen YJ, Hsu CH, Kao HA, Chen MR, Hung HY, Ho CS, Chang JH, Huang FY, Tsai TC, Lin DS, Chan WT. Clinical Characteristics and Survival of Trisomy 13 in a Medical Center in Taiwan, 1985-2004. Pediatr Int. 2007;49:380-6. (SCI)
  9. Hsiang-Yu Lin, Lin SP, Chuang CK, Chen MR, Yen JL, Lee YJ, Huang CY, Tsai LP, Niu DM, Chao MC, Kuo PL. Genotype and Phenotype in Patients with Prader-Willi Syndrome in Taiwan. Acta Paediatr. 2007;96:902-5. (SCI)
  10. Lin SP, Huang SY, Tu MI, Wu YH, Lin CY, Hsiang-Yu Lin, Lee-Chen GJ. Netherton syndrome: mutation analysis of two Taiwanese families. Arch Dermatol Res. 2007;299:145-50. (SCI)
  11. Chen CP, Lin SP, Chang TY, Lee HC, Hung HY, Hsiang-Yu Lin, Huang JP, Wang W. Prenatal sonographic findings of Klippel-Trenaunay-Weber syndrome. J Clin Ultrasound. 2007;35:409-12. (SCI)
  12. Hsiang-Yu Lin, Lin SP, Lin CC, Tsai LP, Chen MR, Chuang CK, Huang CY. Polysomnographic Characteristics in Patients with Prader-Willi Syndrome. Pediatr Pulmonol. 2007;42:881-7. (SCI)
  13. Chang CY, Lin SP, Hsiang-Yu Lin, Chen YJ, Kao HA, Yeung CY, Hsu CH, Chi H. Cri-du-Chat Syndrome. Acta Paediatr Taiwan. 2007;48:328-31. (SCI)
  14. Chang CY, Lin SP, Hsiang-Yu Lin, Chuang CK, Ho CS, Su YN. X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child. J Formos Med Assoc. 2008;107:965-70. (SCI)
  15. Chang CY, Lin SP, Hsiang-Yu Lin, Chuang CK, Ho CS, Hsu CH. Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child. Acta Paediatr Taiwan. 2008;49:35-7. (SCI)
  16. Hsiang-Yu Lin, Lin SP, Tsai LP, Chao MC, Chen MR, Chuang CK, Huang CY, Tsai FJ, Chou IC, Chiu PC, Huang CH, Yen JL, Lin JL, Kuo PL. Effects of Growth Hormone Treatment on Height, Weight, and Obesity in Taiwanese Patients with Prader-Willi Syndrome. J Chin Med Assoc. 2008;71:305-9. (SCI)
  17. Hsiang-Yu Lin, Lin SP, Chuang CK, Chen MR, Chang CY. Intravenous Pamidronate Therapy in Taiwanese Patients with Osteogenesis Imperfecta. Pediatr Neonatol. 2008;49:161-5. (SCI)
  18. Hsiang-Yu Lin, Lin SP, Chuang CK, Chen MR, Chang CY, Niu DM. Clinical Features of Taiwanese Patients with Osteogenesis Imperfecta. J Formos Med Assoc. 2009;108:570-6. (SCI)
  19. Hsiang-Yu Lin, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL. Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A. 2009;149A:960-4. (SCI)
  20. Kao CH, Liu MY, Liu TT, Hsiao KJ, Cheng KH, Huang CH, Hsiang-Yu Lin, Niu DM. Growth hormone therapy in neonatal patients with methylmalonic acidemia. J Chin Med Assoc. 2009;72:462-7. (SCI)
  21. Chuang CK, Wang TJ, Yeung CY, Lin DS, Hsiang-Yu Lin, Liu HL, Ho HT, Hsieh WS, Lin SP. A method for lactate and pyruvate determination in filter-paper dried blood spots. J Chromatogr A. 2009;1216:8947-52. (SCI)
  22. Hsiang-Yu Lin, Chong KW, Hsu JH, Yu HC, Shih CC, MD, Huang CH, Lin SJ, Chen CH, Chiang CC, Ho HJ, Lee PC, Kao CH, Cheng KH, Hsueh C, Niu DM. High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population. Circ Cardiovasc Genet. 2009;2:450-6. (SCI)
  23. Niu DM, Hsiang-Yu Lin, Chong KW, Hsu JH, Yu HC, Huang CH. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Hum Genet. 2010;127:122. (SCI)
  24. Hsiang-Yu Lin, Niu DM, Chong KW, Hsu JH, Yu HC, Huang CH. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Hum Genet. 2010;127:122-123. (SCI)
  25. Hsiang-Yu Lin, Chong KW, Hsu JH, Yu HC, Huang CH, Niu DM. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Hum Genet. 2010;127:124. (SCI)
  26. Hsiang-Yu Lin, Lin SP, Chuang CK. Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta I. Hum Genet. 2010 Apr;127(4):468. (SCI)
  27. Hsiang-Yu Lin, Lin SP, Chuang CK. Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV. Hum Genet. 2010 Apr;127(4):467. (SCI)
  28. Hsiang-Yu Lin, Wu TJ, Hsu JH, Yu HC, Chuang CK, Huang CH, Niu DM. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):464. (SCI)
  29. Niu DM, Hsiang-Yu Lin, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):465. (SCI)
  30. Niu DM, Hsiang-Yu Lin, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):465. (SCI)
  31. Hsiang-Yu Lin, Lin SP, Chuang CK. Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta I. Hum Genet. 2010 Apr;127(4):467. (SCI)
  32. Hsiang-Yu Lin, Chuang CK, Lin SP. Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV. Hum Genet. 2010 Apr;127(4):466. (SCI)
  33. Hsiang-Yu Lin, Wu JT, Hsu JH, Yu HC, Lin SP, Huang CH, Niu DM. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):464. (SCI)
  34. Hsiang-Yu Lin, Lin SP, Chuang CK. Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV. Hum Genet. 2010 Apr;127(4):466. (SCI)
  35. Niu DM, Hsiang-Yu Lin, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):466. (SCI)
  36. Hsiang-Yu Lin, Wu TJ, Hsu JH, Yu HC, Lin SP, Chuang CK, Huang CH, Niu DM. Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. Hum Genet. 2010 Apr;127(4):465. (SCI)
  37. Hsiang-Yu Lin, Lin HY, Lin SP. Novel human pathological mutations. Gene symbol: OTC. Disease: ornithine transcarbamylase deficiency. Hum Genet. 2010 Apr;127(4):475. (SCI)
  38. Hsiang-Yu Lin, Lin SP. Novel human pathological mutations. Gene symbol: COL1A2. Disease: Osteogenesis imperfecta III. Hum Genet. 2010 Apr;127(4):467. (SCI)
  39. Cheng KH, Liu MY, Kao CH, Chen YJ, Hsiao KJ, Liu TT, Hsiang-Yu Lin, Huang CH, Chiang CC, Ho HJ, Lin SP, Lee NC, Hwu WL, Lin JL, Hung PY, Niu DM. Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience from Two Centers in Taiwan. J Chin Med Assoc. 2010;73:314-8. (SCI)
  40. Hsiang-Yu Lin, Chen MR, Lin CC, Chen CP, Lin DS, Chuang CK, Niu DM, Chang JH, Lee HC, Lin SP. Polysomnographic Characteristics in Patients with Mucopolysaccharidoses. Pediatr Pulmonol. 2010;45:1205-12. (SCI)
  41. Hsiang-Yu Lin, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM. Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919G→A). J Inherit Metab Dis. 2010;33:619-24. (SCI)
  42. Hsiang-Yu Lin, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, Ke YY, Tsai FJ, Pan HP, Lin SJ, Hwu WL, Niu DM, Lee NC, Lin SP. Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan. J Inherit Metab Dis. 2010;33(Suppl 3):S421-S427. (SCI)
  43. Hsiang-Yu Lin, Chen MR, Chuang CK, Huang CY, Niu DM, Lin SP. Assessment of Body Composition with Bioelectrical Impedance Analysis in Prader-Willi Syndrome. J Formos Med Assoc. 2011;110;719-23. (SCI)
  44. Hou A, Lin SP, Ho SY, Chen CF, Hsiang-Yu Lin, Chen YJ, Huang CY, Chiu HC, Chuang CK, Chen KS. Genetic studies of Prader-willi patients provide evidence for conservation of genomic architecture in proximal chromosome 15q. Ann Hum Genet. 2011;75:211-21. (SCI)
  45. Lin CY, Chi H, Hsiang-Yu Lin, Chang L, Hou JY, Huang CT, Lee HC, Chen MR, Peng CC, Huang TND, Chiu NC. A scoring system for predicting results of influenza rapid test in children: A possible model facing overwhelming pandemic infection. J Microbiol Immunol Infect. 2012;45:271-5. (SCI)
  46. Hsiang-Yu Lin, Kuo YC, Weng YI, Lai IL, Huang TH, Lin SP, Niu DM, Chen CS. Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restriction-mimetic agent. Prostate. 2012;72:1767-78. (SCI)
  47. Lin HY, Lin SP, Hsiang-Yu Lin, Hsu CH, Chang JH, Kao HA, Hung HY, Peng CC, Lee HC, Chen MR, Tsai JD. Functional independence of Taiwanese children with VACTERL association. Am J Med Genet A. 2012;158A:3101-5. (SCI)
  48. Hsiang-Yu Lin, Shih SC, Chuang CK, Chen MR, Niu DM, Lin SP. Assessment of Bone Mineral Density by Dual Energy X-ray Absorptiometry in Patients with Mucopolysaccharidoses. Orphanet J Rare Dis. 2013;8:71. (SCI)
  49. Hsiang-Yu Lin, Liu HC, Huang YH, Liao HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, Lin CY, Lin SP, Niu DM. Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). BMJ Open. 2013;3:e003146. (SCI)
  50. Lin SP, Hsiang-Yu Lin*, Wang TJ, Chang CY, Lin CH, Huang SF, Tsai CC, Liu HL, Keutzer J, Chuang CK. (*co-first author) A Pilot Newborn Screening Program for Mucopolysaccharidosis Type I in Taiwan. Orphanet J Rare Dis. 2013;8:147. (SCI)
  51. Liao HC, Huang YH, Chen YJ, Kao SM, Hsiang-Yu Lin, 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. Plasma Globotriaosylsphingosine (LysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A). Clin Chim Acta. 2013;426:114-20. (SCI)
  52. Hsiang-Yu Lin, Liu HC, Huang YH, Liao HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, Lin CY, Lin SP, Niu DM. Clinical Observations on Enzyme Replacement Therapy in Patients with Fabry Disease and the Switch from Agalsidase Beta to Agalsidase Alfa. J Chin Med Assoc. 2014;77:190-7. (SCI)
  53. Hsiang-Yu Lin, Chuang CK, Chen MR, Chiu PC, Ke YY, Niu DM, Tsai FJ, Hwu WL, Lin JL, Lin SP. Natural History and Clinical Assessment of Taiwanese Patients with Mucopolysaccharidosis IVA. Orphanet J Rare Dis. 2014;9:21. (SCI)
  54. Lin SP, Shih SC, Chuang CK, Lee KS, Chen MR, Niu DM, Chiu PC, Lin SJ, Hsiang-Yu Lin*. (*corresponding author) Characterization of Pulmonary Function Impairments in Patients with Mucopolysaccharidoses---Changes with Age and Treatment. Pediatr Pulmonol. 2014;49:277-284. (SCI)
  55. Hsiang-Yu Lin, Shih SC, Chuang CK, Lee KS, Chen MR, Lin HC, Chiu PC, Niu DM, Lin SP. Assessment of Hearing Loss by Pure-tone Audiometry in Patients with Mucopolysaccharidoses. Mol Genet Metab. 2014;111:533-8. (SCI)
  56. Lin SM, Hsiang-Yu Lin, Chuang CK, Lin SP, Chen MR. Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis. Mol Genet Metab. 2014;111:493-8. (SCI)
  57. Lee SH, Li CF, Hsiang-Yu Lin, Lin CH, Liu HC, Tsai SF, Niu DM. High-throughput Detection of Common Sequence Variations of Fabry Disease in Taiwan Using DNA Mass Spectrometry. Mol Genet Metab. 2014;111:507-12. (SCI)
  58. Li CF, Hsiang-Yu Lin*, Liu HC, Lee SH, Lo MY, Lin SP, Lo FS, Niu DM. (*co-first author) Hepatomegaly and Hyperammonemia in a Girl with Silver-Russell Syndrome caused by Maternal Uniparental Isodisomy of Chromosome 7. Am J Med Genet A. 2014;164:2114-7. (SCI)
  59. Hsu TR, Sung SH, Chang FP, Yang CF, Liu HC, Hsiang-Yu Lin, Huang CK, Gao HJ, Huang YH, Liao HC, Lee PC, Yang AH, Chiang CC, Lin CY, Yu WC, Niu DM. Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset fabry mutation (IVS4 + 919G > A). Orphanet J Rare Dis. 2014;9:96. (SCI)
  60. Liu HC, Hsiang-Yu Lin*, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM. (*co-first author) 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). Orphanet J Rare Dis. 2014;9:111. (SCI)
  61. Chuang CK, Hsiang-Yu Lin*, Wang TJ, Tsai CC, Liu HL, Lin SP. (*co-first author) A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2014;9:135. (SCI)
  62. Bhattacharya K, Balasubramaniam S, Choy Y, Fietz M, Fu A, Jin D, Kim OH, Kosuga M, Kwun Y, Inwood A, Hsiang-Yu Lin, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP. Overcoming the barriers to diagnosis of Morquio A syndrome. Orphanet J Rare Dis. 2014;9:192. (SCI)
  63. Lu YH, Cheng LM, Huang YH, Lo MY, Wu TJT, Hsiang-Yu Lin, Hsu TR, Niu DM. Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. Clin Nutr. 2015;34:1155-8. (SCI)
  64. Liu HC, Perrin A, Hsu TR, Yang CF, Hsiang-Yu Lin, Yu WC, Niu DM. Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS). JIMD Rep. 2015;22:107-13. (SCI)
  65. Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Hsiang-Yu Lin, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J. Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). Mol Genet Metab. 2015;115:41-7. (SCI)
  66. Hsiang-Yu Lin, Lo CI, Chuang CK, Lin SP. Mucopolysaccharidosis I (Scheie syndrome) — a rare cause of severe aortic stenosis in a 31-year-old man. J Formos Med Assoc. 2015;114:1015-6. (SCI)
  67. Hsiang-Yu Lin, Chuang CK, Su YN, Chen MR, Chiu HC, Niu DM, Lin SP. Genotype and Phenotype Analysis in Taiwanese Patients with Osteogenesis Imperfecta. Orphanet J Rare Dis. 2015;10:152. (SCI)
  68. Hsiang-Yu Lin, 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;58:502-7. (SCI)
  69. Hsiang-Yu Lin, Chuang CK, Chiu HC, Lin SP. Mucopolysaccharidosis type II—an unexpected “3 in 1” family. Pediatr Neonatol. 2016;57;359-60. (SCI)
  70. Hsiang-Yu Lin, Chuang CK, Chen MR, Lin SM, Hung CL, Chang CY, Chiu PC, Tsai WH, Niu DM, Tsai FJ, Lin SJ, Hwu WL, Lin JL, Lin SP. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI. Mol Genet Metab. 2016;117:431-7. (SCI)
  71. Lin SM, Wu SJ, Hsiang-Yu Lin, Chen MR. Anomalous Origin of the Right Coronary Artery from the Pulmonary Artery in an Infant. Pediatr Neonatol. 2016 Oct;57(5):446-448. (SCI)
  72. Hsiang-Yu Lin, Chuang CK, Wang CH, Chien YH, Wang YM, Tsai FJ, Chou YY, Lin SJ, Pan HP, Niu DM, Hwu WL, Ke YY, Lin SP. Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: a case series. Mol Genet Metab Rep. 2016;7:63-9. (SCI)
  73. Su CH, Lee KS, Hsu JH, Lee FP, Hsiang-Yu Lin, Lin SP, Hung SH. Pediatric sialendoscopy in Asians: A preliminary report. J Pediatr Surg. 2016;51:1684-7. (SCI)
  74. Hsiang-Yu Lin, 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;11:85. (SCI)
  75. Hsiang-Yu Lin, 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;19:8-13. (SCI)
  76. Huang WH, Hwang LC, Chan HL, Hsiang-Yu Lin, Lin YH. Study of seven single-nucleotide polymorphisms identified in East Asians for association with obesity in a Taiwanese population. BMJ Open. 2016;6:e011713. (SCI)
  77. Hsiang-Yu Lin, Chuang CK, Chang JH, Lin SP. Early Diagnosis for Mucopolysaccharidosis I — A 6-month-old Female Infant Presenting with Gibbus, Hirsutism and Mongolian Spots in a Well Baby Clinic. J Mucopolysacch Rare Dis. 2016;2(1):23-26.
  78. Hsiang-Yu Lin, Lin SP. Mucolipidosis I/II/III in Taiwan. J Mucopolysacch Rare Dis. 2016;2(1):28.
  79. 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, Hsiang-Yu Lin, Liao TC, Lee PC, Li HY, Yang AH, Ho HC, Chiang CC, Lin CY, Desnick RJ, Niu DM. Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. J Am Coll Cardiol. 2016;68:2554-63. (SCI)
  80. Lin YJ, Ho CS, Hsu CH, Lin JL, Chuang CK, Tsai JD, Chiu NC, Hsiang-Yu Lin, Lin SP. A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. Pediatr Neonatol. 2017;58(1):89-92. (SCI)
  81. Hsiang-Yu Lin, Chuang CK, Lee KS, Lin SP. Awareness of mucopolysaccharidosis in an otorhinolaryngologic clinic. Pediatr Neonatol. 2017;58:198-9. (SCI)
  82. Chuang CK†, Hsiang-Yu Lin† (co-first author), Wang TJ, Huang SF, Lin SP. Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for mucopolysaccharidosis IVA newborn screening purpose. BMJ Open. 2017 Jul 13;7(7):e014410. (SCI)
  83. Hsiang-Yu Lin, Chuang CK, Lin SP. Newborn Screening for Lysosomal Storage Diseases in Taiwan. J Mucopolysacch Rare Dis. 2017;3(1):14-19.
  84. Chuang CK†, Hsiang-Yu Lin† (co-first author), Lin SP. Keratanase II digestion accompanied with a liquid chromatography/tandem mass spectrometry for urinary keratan sulfate quantitative analysis. J Mucopolysacch Rare Dis. 2017;3(1):20-27.
  85. Lee CL, Hsiang-Yu Lin* (co-first author), Tsai LP, Chiu HC, Tu RY, Huang YX, 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;176A:1309-14. (SCI)
  86. Pai CM, Jim WT, Hsiang-Yu Lin, Hsu CH, Kao HA, Hung HY, Peng CC, Chang JH. Factors That Influence Human Milk Feeding at Hospital Discharge for Preterm Infants in a Tertiary Neonatal Care Center in Taiwan. J Perinat Neonat Nurs. 2018;32:189-195. (SCI)
  87. Chuang CK, Hsiang-Yu Lin*, (co-first author) 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;13:84. (SCI)
  88. Hsiang-Yu Lin, 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;176A:1799–1809. (SCI)
  89. Hsiang-Yu Lin, Chuang CK, Chen MR, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Lin SP. Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS). Orphanet J Rare Dis. 2018;13:89. (SCI)
  90. Hsiang-Yu Lin, Chen MR, Lin SM, Hung CL, Niu DM, Chuang CK, Lin SP. Cardiac Features and Effects of Enzyme Replacement Therapy in Taiwanese Patients with Mucopolysaccharidosis IVA. Orphanet J Rare Dis. 2018;13:148. (SCI)
  91. Hsiang-Yu Lin, Lee CL, Lo YT, Wang TJ, Huang SF, Chen TL, Wang YS, Niu DM, Chuang CK, Lin SP. The Relationships Between Urinary Glycosaminoglycan Levels and Phenotypes of Mucopolysaccharidoses. Mol Genet Genomic Med. 2018;6:982-92. (SCI)
  92. Hsiang-Yu Lin, Chuang CK, Lin SP. Mucopolysaccharidoses in Taiwan. J Mucopolysacch Rare Dis. 2018;4(1):14-20.
  93. Hsiang-Yu Lin, Chuang CK, Liu SC, Lin SP. Awareness of attenuated mucopolysaccharidoses in a pediatric orthopedic clinic. Pediatr Neonatol. 2019;60:100-101. (SCI)
  94. Hsiang-Yu Lin, Chuang CK, Ke YY, Hsu CC, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin JL, Lin SP. Long-term Effects of Enzyme Replacement Therapy for Taiwanese Patients with Mucopolysaccharidosis IVA. Pediatr Neonatol. 2019;60:342-343. (SCI)
  95. Chan MJ, Liao HC, Gelb MH, Chuang CK, Liu MY, Chen HJ, Kao SM, Hsiang-Yu Lin, Huang YH, Kumar AB, Chennamaneni NK, Pendem N, Lin SP, Chiang CC. Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI. J Pediatr. 2019;205:176-82. (SCI)
  96. Lee CL, Lee CH, Chuang CK, Chiu HC, Chen YJ, Chou CL, Wu PS, Chen CP, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Array-CGH Increased the Diagnostic Rate of Developmental Delay or Intellectual Disability in Taiwan. Pediatr Neonatol. 2019 Aug;60(4):453-460. (SCI)
  97. Hsiang-Yu Lin, Chan WC, Chen LJ, Lee YC, Yeh SI, Niu DM, Chiu PC, Tsai WH, Hwu WL, Chuang CK, Lin SP. Ophthalmologic Manifestations in Taiwanese Patients with Mucopolysaccharidoses. Mol Genet Genomic Med. 2019 May;7(5):e00617. (SCI)
  98. Chu TH, Chien YH, Hsiang-Yu Lin, Liao HC, Ho HJ, Lai CJ, Chiang CC, Lin NC, Yang CF, Hwu WL, Lee NC, Lin SP, Liu CS, Hu RH, Ho MC, Niu DM. Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. Orphanet J Rare Dis. 2019 Apr 2;14(1):73. (SCI)
  99. Hsiang-Yu Lin, Lee CL, Chuang CK, Lin SP. Long-Term Outcomes of Enzyme Replacement Therapy for Taiwanese Patients with Mucopolysaccharidosis I. Pediatr Neonatol. 2019;60:577-578. (SCI)
  100. Lee CL, Hsiang-Yu Lin* (co-first author), Chuang CK, Chiu HC, Tu RY, Huang YH, Hwu WL, Tsai FJ, Chiu PC, Niu DM, Chen YJ, Chao MC, Chang TM, Lin JL, Chang CY, Kao YC, Lin SP. Functional independence of Taiwanese patients with mucopolysaccharidoses. Mol Genet Genomic Med. 2019 Aug;7(8):e790. (SCI)
  101. Hsiang-Yu Lin, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Cardiac Characteristics and Natural Progression in Taiwanese Patients with Mucopolysaccharidosis III. Orphanet J Rare Dis. 2019;14:140. (SCI)
  102. Hsiang-Yu Lin, Lo YT, Wang TJ, Huang SF, Tu RY, Chen TL, Lin SP, Chuang CK. Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis. Sci Rep. 2019 Jul 24;9(1):10755. (SCI)
  103. Hsiang-Yu Lin, Lee CL, Lo YT, Tu RY, Chang YH, Chang CY, Chiu PC, Chang TM, Tsai WH, Niu DM, Chuang CK, Lin SP. An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. Diagnostics (Basel). 2019, 9(4), 140. (SCI)
  104. Hsiang-Yu Lin, Lin HY, Lee CL, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chang TM, Chuang CK, Lin SP. Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses. Diagnostics (Basel). 2019, 9(4), 148. (SCI)
  105. Lee CL, Tan LTH, Hsiang-Yu Lin* (co-corresponding author), Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP*. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. Am J Med Genet A. 2020;182A:357–364. (SCI)
  106. Hsiang-Yu Lin, 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(1):114. (SCI)
  107. Hsiang-Yu Lin, Chuang CK, Lee CL, Chen MR, Sung KT, Lin SM, Hou CJ, Niu DM, Chang TM, Hung CL, Lin SP. Cardiac Evaluation using Two-dimensional Speckle-tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses. Diagnostics (Basel). 2020;10(2), 62. (SCI)
  108. Chen CP, Hsiang-Yu Lin, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Fran S, Chen YY, Town DD, Pan CW, Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15). Taiwan J Obstet Gynecol. 2020 Jul;59(4):580-585. (SCI)
  109. Lin CY, Hsiang-Yu Lin* (co-first author), Chuang CK, Zhang PH, Tu RY, Lin SP, Tsai HJ. Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans. Diagnostics (Basel). 2020 Oct 21;10(10):E854. (SCI)
  110. Hsiang-Yu Lin, Lee CL, Chang CY, Chiu PC, Chien YH, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chao MC, Chang TM, Tsai WH, Wang TJ, Chuang CK, Lin SP. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). Orphanet J Rare Dis. 2020 Nov 7;15(1):314. (SCI)
  111. Lee CL, Liu SC, Yang CY, Chuang CK, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan. Int J Med Sci. 2021 Jan 14;18(5):1240-1246. (SCI)
  112. Hsiang-Yu Lin, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Aortic root dilatation in Taiwanese patients with mucopolysaccharidoses and the long-term effects of enzyme replacement therapy. Diagnostics (Basel). 2021 Dec 23;11(1):16. (SCI)
  113. Hsiang-Yu Lin, Chen MR, Lee CL, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP. Natural Progression of Cardiac Features and Long-term Effects of Enzyme Replacement Therapy in Taiwanese Patients with Mucopolysaccharidosis II. Orphanet J Rare Dis. 2021 Feb 23;16(1):99. (SCI)
  114. Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature. Mol Genet Metab Rep. 2021 May 7;27:100768. (SCI)
  115. Lee YH, Hsieh LC, Su CH, Hsiang-Yu Lin, Lin SP, Lee KS. Airway Management of the Deformed Trachea Using T-Tube Stents in Patients with Mucopolysaccharidosis Type IVA. Ann Otol Rhinol Laryngol. 2022 May;131(5):562-566. (SCI)
  116. Lee CL, Lee KS, Chuang CK, Su CH, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Chin-Hui SuSearch for articles by this authorOtorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses. Int J Med Sci. 2021 Jul 25;18(15):3373-3379. (SCI)
  117. Lee CL, Chuang CK, Hsu CH, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature. J Formos Med Assoc. 2021 Aug 19:S0929-6646(21)00355-7. (SCI)
  118. Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Hsiang-Yu Lin, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): a review and classification of GALNS gene variants and reporting of 68 novel variants. Hum Mutat. 2021 Nov;42(11):1384-1398. (SCI)
  119. Chuang CK, Lee CL, Tu RY, Lo YT, Sisca F, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Nationwide newborn screening program for mucopolysaccharidoses in Taiwan and an update of the “gold standard” criteria required to make a confirmatory diagnosis. Diagnostics (Basel). 2021 Aug 31;11(9):1583. (SCI)
  120. Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan. Children (Basel). 2021 Oct 22;8(11):952. (SCI)
  121. Hsiang-Yu Lin, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Yang CF, Tsai MC, Chu TH, Chuang CK, Lin SP. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome. J Pers Med. 2021 Oct 22;11(11):1066. (SCI)
  122. Hsiang-Yu Lin, Lee CL, Fran S, Tu RY, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP. Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome. J Pers Med. 2021 Nov 13;11(11):1197. (SCI)
  123. Lee CL, Lin SP, Niu DM*, Hsiang-Yu Lin* (co-corresponding author). Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis. Int J Med Sci. 2022 Jan 1;19(1):126-131. (SCI)
  124. Chen CP, Chern SR, Lin CH, Hsu CY, Hsiang-Yu Lin, Wu FT, Chen SW, Wang W. Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome. Taiwan J Obstet Gynecol. 2021 Nov;60(6):1103-1106. (SCI)
  125. Lee CL, Lin SP, Niu DM*, Hsiang-Yu Lin* (co-corresponding author). Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis. Int J Med Sci. 2022 Jan 1;19(1):126-131. (SCI)
  126. Lee CL, Chuang CK, Tu RY, Chiu HC, Lo YT, Chang YH, Chen YJ, Chou, CL Wu PS, Chen CP, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan. Medicina. 2022, 58, 15. (SCI)
  127.  Lee CL, Lin SM, Chen MR, Chuang CK, Syu YM, Chiu HC, Tu RY, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan. J Pers Med. 2022 May 18;12(5):817. (SCI)
  128. Syu YM, Lee HC, Chang JH, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Rapid weight loss and severe failure to thrive mimicking lipodystrophy syndrome in a 1- year-old Taiwanese girl with Costello syndrome. Children (Basel). 2022 Jun 16;9(6):905. (SCI)
  129. Hsiang-Yu Lin, Chang YH, Lee CL, Tu YR, Lo YT, Hung PW, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-up of the Screen-Positive Subjects in Taiwan. J Pers Med. 2022 Jun 21;12(7):1023. (SCI)
  130. Hung YC, Cheng KY, Hsiang-Yu Lin, Lin SP, Yang CY, Liu SC. Surgical Strategy to Decrease the Revision Rate of Fassier–Duval Nailing in the Lower Limbs of Osteogenesis Imperfecta. J Pers Med. 2022 Jul 15;12(7):1151. (SCI)
  131. Lin CY, Hsiang-Yu Lin* (co-first author), Chuang CK, Zhang PH, Tu RY, Lin SP, Tsai HJ. Quantification of Idua Enzymatic Activity Combined with Observation of Phenotypic Change in Zebrafish Embryos Provide a Preliminary Assessment of Mutated idua Correlated with Mucopolysaccharidosis Type I. J Pers Med. 2022 Jul 23;12(8):1199. (SCI)
  132. Syu YM, Lee CL, Chuang CK, Chiu HC, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Functional Independence of Taiwanese Children with Osteogenesis Imperfecta. J Pers Med. 2022 Jul 24;12(8):1205. (SCI)
  133. Lee CL, Chuang CK, Syu YM, Chiu HC, Tu YR, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Efficacy and Safety of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis. J Pers Med. 2022, 12, 1338. (SCI)
  134. Lao HC, Lin YC, Liang ML, Yang YW, Huang YH, Chan YL, Hsu YW, Lin SP, Chuang CK, Cheng JK*, Hsiang-Yu Lin* (co-corresponding author). The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study. J Pers Med. 2022, 12, 1343. (SCI)
  135. Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Hsiang-Yu Lin* (co-corresponding author), Lin S-P*. Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants. Int J Mol Sci. 2022, 23, 9979. (SCI)
  136. Syu YM, Ma JY, Ou TH, Lee CL, Hsiang-Yu Lin, Lin SP, Lee CJ, Chen CP. 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 (Basel). 2022 Sep 24;12(10):2306. (SCI)

  137. Lin HY, Chang SY, Teng HH, Wu HJ, Li HY, Cheng CC, Chuang CK, Hsiang-Yu Lin, Lin SP, Cheng WC*. Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells. Eur J Med Chem. 2023 Feb 5;247:115005. (SCI)

  138. Lee YH, Su CH, Lin CY, Hsiang-Yu Lin, Lin SP, Chuang CK, Lee KS. Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA. J Pers Med. 2023 Mar 9;13(3):494. (SCI)

  139. Lee CL, Lin SM, Chen MR, Chuang CK, Chiu HC, Tu YR, Lo YT, Chang YH, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. DiGeorge Syndrome (22q11.2 Deletion) in Taiwan: Clinical Presentation and Immune System Status of Patients. Int J Med Sci. 2023; 20(11): 1377-1385. (SCI)

  140. Hsiang-Yu Lin, Lee CL, Tu YR, Chang YH, Niu DM, Chang CY, Chiu PC, Chou YY, Hsiao HP, Tsai MC, Chao MC, Tsai LP, Yang CF, Su PH, Pan YW, Lee CH, Chu TH, Chuang CK, Lin SP. Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome. Int J Med Sci. 2024; 21(1):8-18. (SCI)

  141.  Lee CL, Chuang CK, Chen MR, Lin JL, Chiu HC, Chang YH, Tu YR, Lo YT, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome. Diagnostics (Basel). 2024 Apr 19;14(8):846. (SCI)

  142. Chen TY, Lin SP, Huang DF, Huang HS, Tsai FC, Lee LJ, Hsiang-Yu Lin, Huang HP. Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential. Cell Death Dis. 2024 Apr 29;15(4):302. (SCI)

  143. Lee CL, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients. Front Genet. 2024 May 15;15:1365729. (SCI)

  144. Hsiang-Yu Lin, Cheng WC, Lin CY. Use of Zebrafish in Senescence-Related Neuro-Muscular Degeneration Research. Int J Gerontol. 2024;18(3):136-137. (SCI)

  145. Lee CL, Chang YW, Hsiang-Yu Lin, Lee HC, Yeh TC, Fang LC, Lee NC, Tsai JD, Lin SP. Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. Mol Genet Genomic Med. 2024 Jul;12(7):e2494. (SCI)

  146. Lee CL, Chuang CK, Chen MR, Lin JL, Chiu HC, Chang YH, Tu YR, Lo YT, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome. Diagnostics. 2024; 14(16):1815. (SCI)

  147. Lee CL, Lee KS, Chuang CK, Su CH, Chiu HC, Chang YH, Tu YR, Lo YT, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Advancements in Otorhinolaryngological Management of Mucopolysaccharidosis: A Comprehensive Review. Pediatric Respirology and Critical Care Medicine. 2024;8(3):53-59.

  148. Hsiang-Yu Lin, Lee CL, Chang YH, Tu YR, Lo YT, Wu JY, Niu DM, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Chuang CK, Lin SP. Implementation of Newborn Screening for Mucopolysaccharidosis Type IVA and Long-Term Monitoring in Taiwan. Genet Med. 2024 Oct 3:101286. doi: 10.1016/j.gim.2024.101286. [Impact factor: 6.6, Ranking: 18/191 = 9.4% (Category: GENETICS & HEREDITY)] 

 

林翔宇醫師的專書著作

  1. Chuang CK, Liao HC, Hsiang-Yu Lin, Chiang CC, Lin SP. Chapter 32. Newborn Screening of Mucopolysaccharidoses: Comparison of the Fluorometric Technique and Tandem Mass Spectrometry for Enzyme Assay. In: Tomatsu S, Lavery C, Giugliani R, Harmatz P, Scarpa M, Węgrzyn G, Orii T (eds). Mucopolysaccharidoses Update (2 Volume Set). 2018. Nova Science Publishers, pp 647–60. HARDCOVER ISBN: 978-1-53613-986-0. E-BOOK ISBN: 978-1-53613-987-7.

  2. 黏多醣症醫療照護手冊 / 林翔宇主編。出版單位：衛生福利部國民健康署。2017.12出版。ISBN 978-986-05-5140-2。

  3. 黏多醣症醫療照護手冊第二版 / 林翔宇主編。出版單位：衛生福利部國民健康署。2021.04出版。ISBN 978-986-06443-0-2。

  4.  Lee CL, Chang YH, Chuang CK, Chiu HC, Tu YR, Lo YT, Hsiang-Yu Lin* (co-corresponding author), Lin SP*. Integrating Genetic Counseling in the Management of Mucopolysaccharidoses. In: Genetic Counselling - Navigating the Future. IntechOpen, London, United Kingdom. ISBN 978-085-466-833-5 https://www.intechopen.com/online-first/1199184