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中文 | English | 2012年10月02日

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1.    Tai CL, Liu MY, Yu HC, Chiang CC, Chiang H, Suen JH, Kao SM, Huang YH, Wu TJ, Yang CF, Tsai FC, Lin CY, Chang JG, Chen HD, Niu DM*. (2011). The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots. Clinica Chimica Acta. 2011 Oct 29. [Epub ahead of print]

2.    Lin HY, Huang CH, Yu HC, Chong KW, Hsu JH, Lee PC, Cheng KH, Chiang CC, Ho HJ, Lin SP, Chen SJ, Lin PK, Niu DM*. (2010). Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4+919GA). Journal of Inherited Metabolic Disease, 33(5):619-24.

3.    Lin HY, Chong KW, Hsu JH, Yu HC, Huang CH, Niu DM*. (2010). Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Human Genetics, 127(1), 124.

4.    Niu DM, Lin HY, Chong KW, Hsu JH, Yu HC, Huang CH. (2010). Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Human Genetics, 127(1), 122.

5.    Lin HY, Niu DM, Chong KW, Hsu JH, Yu HC, Huang CH. (2010). Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. Human Genetics, 127(1), 122-3

6.    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*. (2009). High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circulation: Cardiovascular Genetics, 2(5), 450-6.

7.    Lee NC, Niu DM, Lin CY, Hsiao KJ, Yang AH, Ng YY. (2006). Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?Nephrology Dialysis Transplantation, 21(2), 549-50. 

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