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Dau-Ming Niu (牛道明)

Dau-Ming Niu(牛道明)

簡介

學歷
  1. 國立陽明大學臨床醫學研究所博士
  2. 高雄醫學大學 醫學系 學士
經歷 現職:
  1. - 迄今 台北榮總 兒童遺傳內分泌科 主任
  2. - 迄今 台北榮總 遺傳諮詢中心 主任
  3. - 迄今 台北榮總 罕見疾病研究中心 主任
  4. - 迄今 陽明大學 臨床醫學研究所 教授
經歷:
醫療專長
  1. 先天遺傳及代謝疾病、小兒內分泌、罕見疾病、基因診斷、分子醫學
證照
  1. 台灣醫師執照

著作

Honors

  1. Steering committee of Fabry Outcome Survey (FOS), 2015-present.
  2. Asian Congress for inherited metabolic disease (Committee).
  3. 2010 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.
  4. Bureau of Health Promotion, Department of Health, R.O.C.「No.1 in 2010 Outstanding Medicinal Personnel Award of Research and Caring rare diseases」.
  5. 2010 National Yung-Ming University Institute of Clinical Medicine Best Teacher
  6. 2007 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.
  7. 2006 2nd National Presidential Award for Education.
  8. 2006 Veterans Affairs Commission, Executive Yuan, R.O.C. Best Doctor.

 

Representative Publication (*, Corresponding author)

  1. 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.
  2. 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 06 June Published.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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, Tao. Mol Genet Metab. 2012. 105(4):590-5.

 

SCI-indexed papers published in the past 5 years

  1. Shibata N, Hasegawa Y, Yamada K, Kobayashi H, Purevsuren J, Yang Y, Dung VC, Khanh NN, Verma IC, Bijarnia-Mahay S, Lee DH, Niu DM, Hoffmann GF, Shigematsu Y, Fukao T, Fukuda S, Taketani T, Yamaguchi S. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. Mol Genet Metab Rep. 2018 May 21;16:5-10.
  2. 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 06 June Published.
  3. Lin HY, 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 Jun 4;13(1):89
  4. Lee CL, Lin HY, Tsai LP, Chiu HC, Tu RY, Huang YH, 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;176(6):1309-1314.
  5. Yung-Hsiu Lu, Po-Hsun Huang, Li-Yun Wang, Ting-Rong Hsu, Hsing-Yuan Li, Pi-Chang Lee, Yu-Ping Hsieh, Sheng-Che Hung, Yu-Chen Wang, Sheng-Kai Chang, Ya-Ting Lee, Ping-Hsun Ho, Hui-Chen Ho, Dau-Ming Niu*. Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA Mass Spectrometry. J Hum Genet. 2018;63(1):1-8.
  6. Hsu TR, Niu DM*. Fabry disease: Review and experience during newborn screening. Trends Cardiovasc Med. 2017. pii: S1050-1738(17)30162-7.
  7. Hwang HE, Hsu TR, Lee YH, Wang HK, Chiou HJ, Niu DM. Muscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease. 2017;96(44):e8415
  8. Liao HC, Hsu TR, Young L, Chiang CC, Huang CK, Liu HC, Niu DM*, Chen YJ. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan. Mol Genet Metab. 2017. pii: S1096-7192(17)30141-5.
  9. Liao HC, Chan MJ, Yang CF, Chiang CC, Niu DM, Huang CK, Gelb MH. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease. Clin Chem. 2017. 63(7):1271-1277.
  10. Chang WH, Niu DM, Lu CY, Lin SY, Liu TC, Chang JG. Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease. PLoS One. 2017. 12(4):e0175929.
  11. Tsai FC, Lee HJ, Wang AG, Hsieh SC, Lu YH, Lee MC, Pai JS, Chu TH, Yang CF, Hsu TR, Lai CJ, Tsai MT, Ho PH, Lin MC, Cheng LY, Chuang YC, Niu DM*. Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc. 2017. 80(4):253-261.
  12. Chen KH, Chou YC, Hsiao CY, Chien Y, Wang KL, Lai YH, Chang YL, Niu DM, Yu WC. Amelioration of serum 8-OHdG level by enzyme replacement therapy in patients with Fabry cardiomyopathy. Biochem Biophys Res Commun. 2017. 486(2):293-299.
  13. Lee HJ, Hsu TR, Hung SC, Yu WC, Chu TH, Yang CF, Bizjajeva S, Tiu CM, Niu DM*. A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation. BMC Neurol. 2017. 17(1):25.
  14. Auray-Blais C, Lavoie P, Boutin M, Ntwari A, Hsu TR, Huang CK, Niu DM*. Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation. Clin Chim Acta. 2017. 466:185-193.
  15. Chou SJ, Yu WC, Chang YL, Chen WY, Chang WC, Chien Y, Yen JC, Liu YY, Chen SJ, Wang CY, Chen YH, Niu DM, Lin SJ, Chen JW, Chiou SH, Leu HB. Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease. Int J Cardiol. 2017. pii: S0167-5273 (17) 30028-1.
  16. Hsu TR, Chang FP, Chu TH, Sung SH, Bizjajeva S, Yu WC, Niu DM*. Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G>A Mutation: Data from the Fabry Outcome Survey. Int J Mol Sci. 2017. 68:2554-2563.
  17. Bu XM, Niu DM, Wu J, Yuan YL, Song JX, Wang JJ. Elevated levels of preβ1-high-density lipoprotein are associated with cholesterol ester transfer protein, the presence and severity of coronary artery disease. Lipids Health Dis. 2017. 16(1):4.
  18. 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, Lin HY, Liao TC, Lee PC, Li HY, Yang AH, Ho HC, Chiang CC, Lin CY, Desnick RJ, and Niu DM*. Later-Onset Fabry Disease - Cardiac Damage Progresses in Silence - Experience with a Highly Prevalent Mutation. Journal of the American College of Cardiology. 2016. 68(23):2554-2563.
  19. Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM*, Chen YT. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2016. 57(8):3601-9.
  20. Lin HY, 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(1):85.
  21. Lidove O, Barbey F, Niu DM, Brand E, Nicholls K, Bizjajeva S, Hughes DA. Fabry in the older patient: Clinical consequences and possibilities for treatment. Mol Genet Metab. 2016. 118(4):319-25.Lin HY, 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. 18(7):63-9.
  22. Chen KH, Chien Y, Wang KL, Leu HB, Hsiao CY, Lai YH, Wang CY, Chang YL, Lin SJ, Niu DM, Chiou SH, Yu WC. Evaluation of Proinflammatory Prognostic Biomarkers for Fabry Cardiomyopathy with Enzyme Replacement Therapy. Can J Cardiol. 2015. pii: S0828-282X(15)01578-0.
  23. Lin HY, 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(4):431-7.
  24. Lee HJ, Hung SC, Hsu TR, Ko SC, Chui-Mei T, Huang CC, Niu DM, Lin CP. Brain MR Imaging Findings of Cardiac-Type Fabry Disease with an IVS4+919G>A Mutation. AJNR Am J Neuroradiol. 2016. 37(6):1044-9.
  25. 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. 169:174-180.
  26. Lin HY, Chuang CK, Su YN, Chen MR, Chiu HC, Niu DM, Lin SP. Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. Orphanet J Rare Dis. 2015. 10:152.
  27. Liu YN, Liu TT, Fan YL, Niu DM, Chien YH, Chou YY, Lee NC, Hsiao KJ, Chiu YH. Measuring propionyl-CoA carboxylase activity in phytohaemagglutinin stimulated lymphocytes using high performance liquid chromatography. Clin Chim Acta. 2015. pii: S0009-8981(15)30060-7.
  28. Lin HY, Chuang CK, Chen YJ, Tu RY, Chen MR, Niu DM, Lin SP. Functional independence of Taiwanese children with Down syndrome. Dev Med Child Neurol. 2015. 58(5):502-7.
  29. Huang CH, Chiu PC, Liu HC, Lu YH, Huang JK, Charng MJ, Niu DM*. Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect. J Clin Lipidol. 2015. 9(2):234-40.
  30. Liu HC, Perrin A, Hsu TR, Yang CF, Lin HY, 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.
  31. 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. 6:1155-8.
  32. Su PH, Chen JY, Chen YJ, Niu DM, Hsu JH, Lee IC. Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia. J Formos Med Assoc. 2014. 113(11):857-61.
  33. Chen MC, Chang CJ, Lu YH, Niu DM, Lou HY, Chang CC. R173W Mutation of Hydroxymethylbilane Synthetase Is Associated With Acute Intermittent Porphyria Complicated With Rhabdomyolysis: The First Report. J Clin Gastroenterol. 2014. 49(3):256-7.
  34. Yang CF, Niu DM, Jeng MJ, Lee YS, Taso PC, Soong WJ. Late-Onset Pompe Disease With Left-Sided Bronchomalacia. Respir Care. 2014. 60(2):e26-9.
  35. Teng WN, Lin SM, Niu DM, Kuo YM, Chan KH, Sung CS. Anesthetic management of comprehensive dental restoration in a child with glutaric aciduria type 1 using volatile sevoflurane. J Chin Med Assoc. 2014. 77(10):548-51.
  36. Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM*. 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(1):111.
  37. Hsu TR, Sung SH, Chang FP, Yang CF, Liu HC, Lin HY, 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.
  38. Chiu YH, Liu YN, Liao WL, Chang YC, Lin SP, Hsu CC, Chiu PC, Niu DM, Wang CH, Ke YY, Chien YH, Hsiao KJ, Liu TT. Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan. Biochem Genet. 2014. 52(9-10):415-29.
  39. Li CF, Lin HY, Liu HC, Lee SH, Lo MY, Lin SP, Lo FS, Niu DM *. Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7. Am J Med Genet A. 2014. 164A(8):2114-7.
  40. Kaya Z, Niu DM, Yorulmaz A, Tekin A, Gürsel T. A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. Pediatr Blood Cancer. 2014. 61(8):1457-9.
  41. Lee SH, Li CF, Lin HY, 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(4):507-12.
  42. Lin HY, 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(4):533-8.
  43. Liao HC, Chiang CC, Niu DM, Wang CH, Kao SM, Tsai FJ, Huang YH, Liu HC, Huang CK, Gao HJ, Yang CF, Chan MJ, Lin WD, Chen YJ. (2014) Detecting multiple lysosomal storage diseases by tandem mass spectrometry - A national newborn screening program in Taiwan. Clin Chim Acta. 2014. 431:80-6.
  44. Lin HY, 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(1):21.
  45. Chang WL, Huang CJ, Lei TH, Niu DM, Chiu CY, Jap TS. A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. Diabetes Res Clin Pract. 2014. 104(1):e29-32.
  46. Liang Y, Huang MZ, Cheng CY, Chao HK, Fwu VT, Chiang SH, Hsiao KJ, Niu DM, Su TS. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population. J Hum Genet. 2014. 59(3):145-52.
  47. Lin HY, Huang YH, Liao HC, Liu HC, Hsu TR, Shen CI, Li ST, Li CF, Lee LH, Lee PC, Huang CK, Chiang CC, 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. 2013. 77(4):190-7.
  48. Yang CF, Liu HC, Hsu TR, Tsai FC, Chiang SF, Chiang CC, Ho HC, Lai CJ, Yang TF, Chuang SY, Lin CY, Niu DM*. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Am J Med Genet A. 2013. 164A(1):54-61.
  49. Liao HC, Huang YH, Chen YJ, Kao SM, Lin HY, 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
  50. Lin HY, 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(7). pii: e003146.
  51. Lin HY, 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.
  52. Liu MY, Liu TT, Yang YL, Chang YC, Fan YL, Lee SF, Teng YT, Chiang SH, Niu DM, Lin SJ, Chao MC, Lin SP, Han LS, Qi Y, Hsiao KJ. (2013). Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. JIMD Rep. 2013. 6:55-64.
  53. Shen CM, Lin SC, Niu DM, Kou YR. (2013). Development of monocyte Toll-like receptor 2 and Toll-like receptor 4 in preterm newborns during the first few months of life. Pediatr Res. 2013. 75(5):685-91.