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
21
Lee NC, Hsu WC, Chang LM, Chen YC, Huang PT, Chien CC, Chien YH, Chen CL, Hwu WL, Lee PL. REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample. J Formos Med Assoc. 2020 Jan;119(1 Pt 3):516-523. doi: 10.1016/j.jfma.2019.07.015. Epub 2019 Aug 1. PMID: 31378642.
22
Weng WC, Hsu YK, Chang FM, Lin CY, Hwu WL, Lee WT, Lee NC, Chien YH. CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening. Genet Med. 2021 Feb;23(2):415-420. doi: 10.1038/s41436-020-00987-w. Epub 2020 Oct 9. PMID: 33033402.
23
Ho SY, Chien YH, Tsai LK, Muramatsu SI, Hwu WL, Liou HH, Lee NC. Electrical Abnormalities in Dopaminergic Neurons of the Substantia Nigra in Mice With an Aromatic L-Amino Acid Decarboxylase Deficiency. Front Cell Neurosci. 2019 Jan 31;13:9. doi: 10.3389/fncel.2019.00009. PMID: 30766478; PMCID: PMC6365702.
24
Hsu RH, Hwu WL, Chen M, Chung IF, Peng SS, Chen CY, Cheng WC, Chien YH, Lee NC. Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs. Pediatr Neonatol. 2019 Feb;60(1):102-104. doi: 10.1016/j.pedneo.2018.04.002. Epub 2018 Apr 13. PMID: 29776788.
25
Hsu RH, Chien YH, Hwu WL, Chang IF, Ho HC, Chou SP, Huang TM, Lee NC. Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. Orphanet J Rare Dis. 2019 Jan 7;14(1):6. doi: 10.1186/s13023-018-0992-2. PMID: 30616616; PMCID: PMC6323711.
26
Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments. Proc Natl Acad Sci U S A. 2019 Feb 5;116(6):1823-1824. doi: 10.1073/pnas.1821357116. Epub 2019 Jan 23. PMID: 30674682; PMCID: PMC6369755.
27
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. PMID: 31342611; PMCID: PMC6852536.
28
Wu ET, Hwu WL, Chien YH, Hsu C, Chen TF, Chen NQ, Chou HC, Tsao PN, Fan PC, Tsai IJ, Lin SP, Hsieh WS, Chang TM, Chen CN, Lee CH, Chou YY, Chiu PC, Tsai WH, Hsiung HC, Lai F, Lee NC. Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses. Pediatr Crit Care Med. 2019 Nov;20(11):1021-1026. doi: 10.1097/PCC.0000000000002068. PMID: 31261230.
29
Tsai LK, Hwu WL, Lee NC, Huang PH, Chien YH. Clinical features of Pompe disease with motor neuronopathy. Neuromuscul Disord. 2019 Nov;29(11):903-906. doi: 10.1016/j.nmd.2019.09.011. Epub 2019 Sep 25. PMID: 31706699.
30
Lee NC, Chien YH, Hwu WL. A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):226-229. doi: 10.1002/ajmg.c.31670. Epub 2019 Jan 7. PMID: 30614627.
