• PhD, National Yang Ming University, 2001-2004
• Medical Genetics Fellowship, Duke University, 1995-1996
• Clinical Research Fellow, Taiwan University Medical College Hospital, 1993-1994
• B.S., Kaohsiung Medical College, 1980-1987

• Director, Department of Paediatrics, Taipei Veterans General Hospital, 2018-
• Director, Department of Paediatric Genetic Endocrinology, Taipei Veterans General Hospital, 2014-2018
• Director, Rare Disease Treatment Centre, Taipei Veterans General Hospital, 2011-
• Professor, Institute of Clinical Medicine, National Yang Ming University, 2011-
• Associate Professor, National Yang Ming University, 2008-2011
• Director, Genetic Counselling Centre, Department of Paediatrics, Taipei Veterans General Hospital, 2009-2020
• Assistant Professor, National Yang Ming University, 2004-2008
• Attending Physician, Department of Paediatrics, Taipei Veterans General Hospital, 1994-

1. 110 Years of Medical Contribution Award from the Health and Welfare Council of the Legislative Yuan.

2. 110 won the 23rd SNQ National Biotechnology and Healthcare Quality Award Gold Award for ‘Unique in the World – Fabry’s Disease Research and Treatment Centre’.

3. 110 25th Outstanding Academic Alumni – Kaohsiung Medical University

4. 109 18th Outstanding Academic Alumni-National Yang Ming University

5. 108th Ministry of Health and Welfare Rare Disease Prevention and Control Contribution Award

6. 108 Apricot Grove Award, Taipei City Physicians Association

7. 107 Outstanding Research Award, Ministry of Science and Technology

8. 107 Outstanding Physician, Taipei Veterans General Hospital

9. 107 First Place, Academic Paper Award, Taipei Veterans General Hospital

10. 105 Outstanding Teacher of National Yang Ming University Student Network Teaching Evaluation

11. 1999 Outstanding Physician, Counselling Committee for Discharged Officers and Soldiers, Executive Yuan, Taiwan.

12. 1999 National Health Service ‘99 Outstanding Medical Staff Award for Caring for Rare Disease Cases’, 1st place.

13. 1999 Outstanding Teacher, Clinical Medicine Institute, Yang Ming University, Taiwan

14. 1998 First Place, Department of Health, Executive Yuan, ‘Outstanding Medical Personnel Award for Taking Care of Rare Disease Cases’.

15. 96 Outstanding Physician, Counselling Committee for Discharged Officers and Soldiers, Executive Yuan, Taiwan.

16. 1995 Presidential Award of the Second Educational Hundred People’s Group

17. 1995 Outstanding Physician, National Discharge Council, Executive Yuan, Taiwan

18. 1994 Department of Health, Executive Yuan, Rare Disease Case Merit Award, Outstanding Medical Personnel Commendation

19. 91st Outstanding Medical Personnel of the Department of Health, Executive Yuan, Second Place, Rare Disease Case Merit Award

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..

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.