TPIDB > Principal Investigator
Principal Investigator
National Taiwan University Hospital
(在職)
Division of Pediatrics
Division of Ophthalmology
Division of General Internal Medicine
更新時間：2023-09-19
簡穎秀Chien, Yin-Hsiu
- Principal Investigator
- Clinical Trial Experience (year) 17 years 9 個月
Publication
42Publications
31
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K. International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria. Mol Genet Metab. 2019 May;127(1):1-11. doi: 10.1016/j.ymgme.2019.04.004. Epub 2019 Apr 26. PMID: 31103398.
32
Tseng CH, Chien YH, Lee NC, Hsu YC, Peng SF, Tseng WI, Hwu WL. Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency. Ann Neurol. 2019 May;85(5):644-652. doi: 10.1002/ana.25467. Epub 2019 Apr 2. PMID: 30864153.
33
Chu TH, Chien YH, Lin HY, Liao HC, Ho HJ, Lai CJ, Chiang CC, Lin NC, Yang CF, Hwu WL, Lee NC, Lin SP, Liu CS, Hu RH, Ho MC, Niu DM. Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. Orphanet J Rare Dis. 2019 Apr 2;14(1):73. doi: 10.1186/s13023-019-1045-1. PMID: 30940196; PMCID: PMC6444613.
34
Chin CY, Hsu CT, Lee CS, Chien YH, Wu JF. Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease. Pediatr Neonatol. 2019 Apr;60(2):221-223. doi: 10.1016/j.pedneo.2018.05.002. Epub 2018 May 12. PMID: 29866519.
35
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD. Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25. PMID: 30827756.
36
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Barić I, Lund AM, Kölker S, Williams M; Additional individual contributors from E-IMD. Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. J Inherit Metab Dis. 2019 Nov;42(6):1162-1175. doi: 10.1002/jimd.12066. Epub 2019 Feb 27. PMID: 30734935.
37
Chen SJ, Lee NC, Chien YH, Hwu WL, Lin CH. Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population. Brain Behav. 2019 Oct;9(10):e01414. doi: 10.1002/brb3.1414. Epub 2019 Sep 16. PMID: 31523939; PMCID: PMC6790309.
38
Yu HH, Hu TC, Lee NC, Chien YH, Yang YH, Hwu WL, Chiang BL. Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency. J Microbiol Immunol Infect. 2019 Jun;52(3):504-506. doi: 10.1016/j.jmii.2018.04.009. Epub 2018 Aug 31. PMID: 30243918.
39
Chee SY, Guo JW, Huang CJ, Chien YH, Lee YC, Feng WK. Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia. Cytogenet Genome Res. 2019;157(4):227-230. doi: 10.1159/000499956. Epub 2019 Apr 27. PMID: 31030199.
40
Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, Willis B, Kwong AK, Chou YY, Lin SP, Quinzii CM, Hwu WL, Chien YH, Kuo PL, Chan VC, Tsoi C, Chong SC, Rodenburg RJT, Smeitink J, Mak CC, Yeung KS, Fung JL, Lam W, Hui J, Lee NC, Fung CW, Chung BH. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese. NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. PMID: 31396399; PMCID: PMC6683205.
