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
1
Cho CY, Tsai WY, Lee CT, Liu SY, Huang SY, Chien YH, Hwu WL, Lee NC, Tung YC. Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience. J Formos Med Assoc. 2021 Mar 25:S0929-6646(21)00115-7. doi: 10.1016/j.jfma.2021.03.010. Epub ahead of print. PMID: 33775534.
2
Kuo YC, Hsueh HW, Hsueh SJ, Lee NC, Hsieh MJ, Chao CC, Chien YH, Huang PH, Yang CC. A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan. Neuromuscul Disord. 2021 Mar;31(3):218-225. doi: 10.1016/j.nmd.2021.01.006. Epub 2021 Jan 13. PMID: 33589341.
3
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.
4
Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD). Long-term effects of medical management on growth and weight in individuals with urea cycle disorders. Sci Rep. 2020 Jul 20;10(1):11948. doi: 10.1038/s41598-020-67496-3. PMID: 32686765; PMCID: PMC7371674.
5
Chiang SC, Chien YH, Chang KL, Lee NC, Hwu WL. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan. Int J Neonatal Screen. 2020 Apr 1;6(2):30. doi: 10.3390/ijns6020030. PMID: 33073026; PMCID: PMC7422994.
6
Lin HY, Lee CL, Chang CY, Chiu PC, Chien YH, Niu DM, Tsai FJ, Hwu WL, Lin SJ, Lin JL, Chao MC, Chang TM, Tsai WH, Wang TJ, Chuang CK, Lin SP. Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019). Orphanet J Rare Dis. 2020 Nov 7;15(1):314. doi: 10.1186/s13023-020-01598-z. PMID: 33160388; PMCID: PMC7648385.
7
Hwu WL, Chien YH. Development of Newborn Screening for Pompe Disease. Int J Neonatal Screen. 2020 Jan 24;6(1):5. doi: 10.3390/ijns6010005. PMID: 33073004; PMCID: PMC7422982.
8
Weng HL, Yang FJ, Chien YH, Chen PR, Lin ZX, Lee NC, Hwu WL. Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma. J Nephrol. 2020 Oct;33(5):1111-1113. doi: 10.1007/s40620-020-00813-1. Epub 2020 Jul 27. PMID: 32720136.
9
Chu SY, Chien CC, Hwu WL, Wang PJ, Chien YH. Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant. Blood Cells Mol Dis. 2020 Mar;81:102402. doi: 10.1016/j.bcmd.2019.102402. Epub 2020 Jan 2. PMID: 31918384.
10
Lee NC, Peng WH, Tsai LK, Lu YH, Wang HC, Shih YC, Pung ZX, Hu HY, Hwu WL, Tseng WI, Chien YH. Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice. Sci Rep. 2020 Nov 19;10(1):20239. doi: 10.1038/s41598-020-77193-w. PMID: 33214573; PMCID: PMC7677380.
