Niu DM - Search Results

1

Congenital insensitivity to pain with anhidrosis in Taiwan: a morphometric and genetic study.

Guo YC, Liao KK, Soong BW, Tsai CP, Niu DM, Lee HY, Lin KP. Guo YC, et al. Among authors: niu dm. Eur Neurol. 2004;51(4):206-14. doi: 10.1159/000078487. Epub 2004 May 17. Eur Neurol. 2004. PMID: 15159601

2

Subtle brain dysfunction in treated 6-pyruvoyl-tetrahydropterin synthase deficiency: relationship to motor tasks and neurophysiological tests.

Kao CD, Niu DM, Chen JT, Shan DE, Lin YY, Wu ZA, Liao KK. Kao CD, et al. Among authors: niu dm. Brain Dev. 2004 Mar;26(2):93-8. doi: 10.1016/S0387-7604(03)00098-6. Brain Dev. 2004. PMID: 15036427

3

Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.

Chiang MC, Chen HM, Lee YH, Chang HH, Wu YC, Soong BW, Chen CM, Wu YR, Liu CS, Niu DM, Wu JY, Chen YT, Chern Y. Chiang MC, et al. Among authors: niu dm. Hum Mol Genet. 2007 Mar 1;16(5):483-98. doi: 10.1093/hmg/ddl481. Epub 2007 Jan 9. Hum Mol Genet. 2007. PMID: 17213233

4

A comparison of central nervous system involvement in patients with classical Fabry disease or the later-onset subtype with the IVS4+919G>A mutation.

Lee HJ, Hsu TR, Hung SC, Yu WC, Chu TH, Yang CF, Bizjajeva S, Tiu CM, Niu DM. Lee HJ, et al. Among authors: niu dm. BMC Neurol. 2017 Feb 6;17(1):25. doi: 10.1186/s12883-017-0810-9. BMC Neurol. 2017. PMID: 28166746 Free PMC article.

5

Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.

Lin HY, 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. Lin HY, et al. Among authors: niu dm. Am J Med Genet A. 2018 Sep;176(9):1799-1809. doi: 10.1002/ajmg.a.40351. Epub 2018 Aug 2. Am J Med Genet A. 2018. PMID: 30070758

6

Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.

Liu KM, Liu TT, Lee NC, Cheng LY, Hsiao KJ, Niu DM. Liu KM, et al. Among authors: niu dm. Arch Neurol. 2008 Mar;65(3):387-92. doi: 10.1001/archneur.65.3.387. Arch Neurol. 2008. PMID: 18332253 Clinical Trial.

7

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004.

Lin HY, Lin SP, Chuang CK, Niu DM, Chen MR, Tsai FJ, Chao MC, Chiu PC, Lin SJ, Tsai LP, Hwu WL, Lin JL. Lin HY, et al. Among authors: niu dm. Am J Med Genet A. 2009 May;149A(5):960-4. doi: 10.1002/ajmg.a.32781. Am J Med Genet A. 2009. PMID: 19396827

8

Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.

Lu YH, Huang YH, Cheng LM, Yu HC, Hsu JH, Wu TJ, Lo MY, Lin A, Lin CY, Wu JY, Niu DM. Lu YH, et al. Among authors: niu dm. Mol Genet Metab. 2012 Apr;105(4):590-5. doi: 10.1016/j.ymgme.2012.01.021. Epub 2012 Feb 1. Mol Genet Metab. 2012. PMID: 22353391

9

Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22.

Huang YH, Tai CL, Lu YH, Wu TJ, Chen HD, Niu DM. Huang YH, et al. Among authors: niu dm. Blood Cells Mol Dis. 2012 Aug 15;49(2):114-7. doi: 10.1016/j.bcmd.2012.05.005. Epub 2012 May 30. Blood Cells Mol Dis. 2012. PMID: 22658170

10

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.

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. Lin HY, et al. Among authors: niu dm. Orphanet J Rare Dis. 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. Orphanet J Rare Dis. 2016. PMID: 27349225 Free PMC article.

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