林炫沛
單位：小兒遺傳科
現職：
馬偕紀念醫院小兒科部資深主治醫師
馬偕紀念醫院罕見疾病中心主任
醫學研究部生化遺傳組組長
台灣兒科醫學會醫學遺傳學/新陳代謝學次專科委員會 主任委員
馬偕醫學院醫學系教授
馬偕醫護管理專校嬰幼兒保育系教授
國立台北護理健康大學嬰幼兒保育系兼任教授
主要學歷：
高雄醫學大學 醫學系 醫學士
主要經歷：
馬偕醫學院醫學系教授
馬偕紀念醫院小兒遺傳科主任
馬偕醫護管理學院嬰幼兒保育系教授
國立台北護理健康大學嬰幼兒保育系兼任教授
醫學研究部生化遺傳組組長
行政院 衛生署罕見疾病及藥物審議委員會委員
台北市政府婦幼健康促進委員會委員
台灣人類遺傳學會常務理事
台北市醫師公會教育委員會委員
兒童福利聯盟基金會顧問
台北市暨中華民國喜願協會理事兼醫療顧問
白化症者關懷協會、玻璃娃娃協會、軟骨發育不全症偕會及結節硬化症協會醫療顧問
台灣粘多醣症協會榮譽理事長
罕見疾病基金會常務董事
中華民國唐氏症基金會董事
國際黏多醣症第四型自然病史登錄計畫(MOR-001)亞洲區負責人
國際黏多醣症第四型人體試驗計畫(MOR)亞洲區負責人
國際黏多醣症第二型自然病史登錄計畫(HOS)台灣負責人
亞太黏多醣症研究聯盟(APMN)核心委員 美國人類遺傳學會會員
亞洲先天代謝疾病學會(ASIMD)理事 國際普瑞德-威利氏症候群組織(IPWSO)亞洲區顧問
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
論文研究:(2013年起~)
林炫沛醫師的醫學論文研究著作
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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. Accept on November 14, 2014. (SCI)
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)
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. Clinical Nutrition. Accept on November 27, 2014. (SCI)
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)
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)
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)
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. Accept on August 3, 2015. (SCI)
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)
Hsiang-Yu Lin, Chuang CK, Chiu HC, Lin SP. Mucopolysaccharidosis type II—an unexpected “3 in 1” family. Pediatr Neonatol. Accept on November 27, 2015. (SCI)
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. Effects of Enzyme Replacement Therapy on Cardiac Structure and Function in Patients with Mucopolysaccharidoses I, II, IVA and VI. Mol Genet Metab. Accept on February 15, 2016. (SCI)