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42 results
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Fabry disease: Review and experience during newborn screening.
Hsu TR, Niu DM. Hsu TR, et al. Trends Cardiovasc Med. 2018 May;28(4):274-281. doi: 10.1016/j.tcm.2017.10.001. Epub 2017 Oct 20. Trends Cardiovasc Med. 2018. PMID: 29100912 Review.
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).
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. Lin HY, et al. Among authors: hsu tr. BMJ Open. 2013 Jul 16;3(7):e003146. doi: 10.1136/bmjopen-2013-003146. Print 2013. BMJ Open. 2013. PMID: 23864212 Free PMC article.
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
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. Liao HC, et al. Among authors: hsu tr. Clin Chim Acta. 2013 Nov 15;426:114-20. doi: 10.1016/j.cca.2013.09.008. Epub 2013 Sep 19. Clin Chim Acta. 2013. PMID: 24055776
A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Yang CF, Liu HC, Hsu TR, Tsai FC, Chiang SF, Chiang CC, Ho HC, Lai CJ, Yang TF, Chuang SY, Lin CY, Niu DM. Yang CF, et al. Among authors: hsu tr. Am J Med Genet A. 2014 Jan;164A(1):54-61. doi: 10.1002/ajmg.a.36197. Epub 2013 Nov 15. Am J Med Genet A. 2014. PMID: 24243590
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa.
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. Lin HY, et al. Among authors: hsu tr. J Chin Med Assoc. 2014 Apr;77(4):190-7. doi: 10.1016/j.jcma.2013.11.006. Epub 2013 Dec 30. J Chin Med Assoc. 2014. PMID: 24388678
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4ā€‰+ā€‰919Gā€‰>ā€‰A).
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. Hsu TR, et al. Orphanet J Rare Dis. 2014 Jul 1;9:96. doi: 10.1186/1750-1172-9-96. Orphanet J Rare Dis. 2014. PMID: 24980630 Free PMC article.
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).
Liu HC, Lin HY, Yang CF, Liao HC, Hsu TR, Lo CW, Chang FP, Huang CK, Lu YH, Lin SP, Yu WC, Niu DM. Liu HC, et al. Among authors: hsu tr. Orphanet J Rare Dis. 2014 Jul 22;9:111. doi: 10.1186/s13023-014-0111-y. Orphanet J Rare Dis. 2014. PMID: 25047006 Free PMC article.
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).
Liu HC, Perrin A, Hsu TR, Yang CF, Lin HY, Yu WC, Niu DM. Liu HC, et al. Among authors: hsu tr. JIMD Rep. 2015;22:107-13. doi: 10.1007/8904_2015_418. Epub 2015 Mar 12. JIMD Rep. 2015. PMID: 25762495 Free PMC article.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
Yang CF, Yang CC, Liao HC, Huang LY, Chiang CC, Ho HC, Lai CJ, Chu TH, Yang TF, Hsu TR, Soong WJ, Niu DM. Yang CF, et al. Among authors: hsu tr. J Pediatr. 2016 Feb;169:174-80.e1. doi: 10.1016/j.jpeds.2015.10.078. Epub 2015 Dec 10. J Pediatr. 2016. PMID: 26685070
Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.
Lai CJ, Hsu TR, Yang CF, Chen SJ, Chuang YC, Niu DM. Lai CJ, et al. Among authors: hsu tr. J Child Neurol. 2016 Dec;31(14):1617-1621. doi: 10.1177/0883073816665549. Epub 2016 Sep 21. J Child Neurol. 2016. PMID: 27655474 Clinical Trial.
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