• 國立陽明大學臨床醫學所博士, 2001-2004
• 美國杜克大學醫學遺傳學研究員, 1995-1996
• 臺灣大學醫學院附設醫院臨床研究員, 1993-1994
• 高雄醫學院醫學系學士, 1980-1987

• 臺北榮民總醫院兒童醫學部主任, 2019-2025
• 臺北榮民總醫院罕見疾病治療中心主任, 2011-迄今
• 國立陽明大學臨床醫學所教授, 2011-迄今
• 臺北榮民總醫院兒童遺傳內分泌科主任, 2014-2019
• 國立陽明大學臨床醫學所副教授, 2008-2011
• 臺北榮民總醫院遺傳諮詢中心主任, 2009-2020
• 國立陽明大學臨床醫學所助理教授, 2004-2008
• 臺北榮民總醫院兒童醫學部主治醫師, 1994-迄今

1. 114年以「建立全球最高效龐貝氏症診斷及治療照護模式-病童治療成效全球
   最佳」，榮獲第25屆NHQA 國家醫療品質獎-金獎
2. 113年以即時全基因分析系統「Magic Bison」，榮獲首屆風傳媒「AI精準治療大獎」
3. 113年開發出全世界第一個即時全基因分析系統「Magic Bison」，榮獲第20屆國家新創獎
4. 110年榮獲立法院厚生會-醫療奉獻獎
5. 110年以「獨步全球-法布瑞氏症研究治療中心」榮獲廿三屆SNQ國家生技醫療品質獎金獎
6. 110年第25屆學術類傑出校友-高雄醫學大學
7. 109年第十八屆學術類傑出校友-國立陽明大學
8. 108年衛生福利部罕見疾病防治貢獻獎
9. 108年台北市醫師公會杏林獎
10. 107年度科技部傑出研究獎
11. 98年行政院衛生署98年度照護罕見疾病個案之績優醫事人員獎第一名
12. 95年度第二屆教育百人團總統獎

Hsu TR, Hung SC, Chang FP, Yu WC, Sung SH, Hsu CL, Dzhagalov I, Yang CF, Chu TH, Lee HJ, Chang SK, Liao HC, Lin HY, 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. 2017. 68:2554-2563.

Yang CF, Liao TE, Chu YL, Chen LZ, Huang LY, Yang TF, Ho HC, Kao SM, Niu DM*. Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme. J Med Genet. 2023;60(5):430-439..

Chao HC, Lu YY, Chiang YT, Chen YR, Yen CT, Huang CY, Chang SK, Cheng YF, Lu YH, Niu DM*. Beneficial bystander-enhanced cryptic splice rescue of cardiac-type Fabry GLA IVS4+919G>A by adenine base editing in patient fibroblasts. Gene Ther. 2026 Apr 18.

Lee CL, Chen PS, Lu YY, Chiang YT, Yen CT, Huang CY, Cheng YF, Lin HY, Chen YR, Niu DM. Early Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation. Can J Cardiol. 2025:939-951.

Chang FP, Lee YT, Liu PH, Chen PS, Chen YR, Niu DM. Comparative Evaluation of AAV8 and AAV9 Gene Therapy in Fabry Knockout (Gla-/y) and Symptomatic (G3STg/+Gla-/y) Murine Models. Genes (Basel). 2025 Jun 29;16(7):766.

Hsu MJ, Chang FP, Lu YH, Hung SC, Wang YC , Yang AH, Lee HJ, Sung SH, Wang YF, Yu WC, Hsu TR, Huang PH, Chang SK, Ivan Dzhagalov , Hsu CL, Niu DM*. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients. Genetics in Medicine. 2018; 21(1):224-232.

Lin HY, Chong KW, Hsu JH, Yu HC, Shih CC, 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(5):450-6.

Li HY, Lin HY, Chang SK, Chiu YT, Hou CC, Ko TP, Huang KF, Niu DM*, Cheng WC. Mechanistic Insights into Dibasic Iminosugars as pH-Selective Pharmacological Chaperones to Stabilize Human α-Galactosidase. JACS Au. 2024;4(3):908-918.

Yang CF, Yang CC, Liao HC, Huang LY, Chiang CC, Ho HC, Lai CJ, Chu TH, Yang TF, Hsu TR, Soong WJ, Niu DM*. Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes. J Pediatr. 2016. 169:174-80.

Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM*. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch Neurol. 2008. 65(3):387-92.

Niu DM, Hsu JH, Chong KW, Huang CH, Lu YH, Kao CH, Yu HC, Lo MY, Jap TS. Six new mutations of the thyroglobulin gene discovered in Taiwanese children presenting with thyroid dyshormonogenesis. J Clin Endocrinol Metab. 2009. 94(12):5045-52.

Niu DM, Hwang B, Chu YK, Liao CJ, Wang PL, Lin CY. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. J Clin Endocrinol Metab. 2002. 87(9):4208-12.

Niu DM, Lin CY, Hwang B, Jap TS, Liao CJ, Wu JY. Contribution of genetic factors to neonatal transient hypothyroidism. Arch Dis Child Fetal Neonatal Ed. 2005. 90(1):F69-72.

Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT. A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J Med Genet. 2006. 43(10):817-21.

Niu DM, Pan CC, Lin CY, Hwang B, Chung MY. Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite. J Pediatr. 2002. 140(6):732-5.

Lu YH, Cheng LM, Huang YH, Lo MY, Wu TJ, Lin HY, 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(6):1155-8.

Lu YH, Huang YH, Cheng LM, Yu HC, Hsu JH, Wu TJ, Lo MY, Lin A, Lin CY, Wu JY, Niu DM*. Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe. Mol Genet Metab. 2012. 105(4):590-5.

Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, Hsu TR, Yang CF, Nakamura K, Niu DM. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago. J Hum Genet. 2020;65(7):619-625.