Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Szu-Hui Chiang"'
Autor:
Pei-Chen Tsao, Hsin-Ling Yeh, Yu-Shih Shiau, Yen-Chen Chang, Szu-Hui Chiang, Wen-Jue Soong, Mei-Jy Jeng, Kwang-Jen Hsiao, Po-Huang Chiang
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)
Abstract Newborns with significant neonatal jaundice (SNJ) would admit for evaluation and/or intervention due to an earlier or more rapid increase in bilirubin level. Bilirubin-induced neurological dysfunction in this population might be underestimat
Externí odkaz:
https://doaj.org/article/6322d1ace3614b0c9e43e114dc18199b
Autor:
Pei-Chen Tsao, Yu-Shih Shiau, Szu-Hui Chiang, Hui-Chen Ho, Yu-Ling Liu, Yuan-Fang Chung, Li-Ju Lin, Ming-Ren Chen, Jia-Kan Chang, Wen-Jue Soong, Hsiu-Lian Lin, Betau Hwang, Kwang-Jen Hsiao
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153407 (2016)
Early detection of critical congenital heart disease (CCHD) can significantly reduce morbidity and mortality among newborns. We investigate the feasibility of implementing a community-based newborn CCHD screening program in Taipei.Twelve birthing fac
Externí odkaz:
https://doaj.org/article/f9cd8d02769045389aedcdf9f1a6044d
Autor:
Pei-Chen Tsao, Szu-Hui Chiang, Yu-Shih Shiau, Hsing-Yi Chen, Hsueh-Lan Lin, Hui-Chen Ho, Ming-Ren Chen, Jia-Kan Chang, Jou-Kou Wang, Shuenn-Nan Chiu, Mei-Jy Jeng, Kwang-Jen Hsiao
Publikováno v:
Pediatrics. 151
OBJECTIVESAn extended newborn critical congenital heart disease (CCHD) screening program using oximetry has been implemented in Taipei, Taiwan since April 2014. This study was conducted to investigate the test accuracy and efficiency of this screenin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d57983849696d608372341afc6cb1e99
https://doi.org/10.1542/peds.2022-057862
https://doi.org/10.1542/peds.2022-057862
Autor:
Po Huang Chiang, Kwang-Jen Hsiao, Wen Jue Soong, Szu Hui Chiang, Yu Shih Shiau, Hsin Ling Yeh, Yen Chen Chang, Mei Jy Jeng, Pei Chen Tsao
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-8 (2020)
Scientific Reports
Scientific Reports
Newborns with significant neonatal jaundice (SNJ) would admit for evaluation and/or intervention due to an earlier or more rapid increase in bilirubin level. Bilirubin-induced neurological dysfunction in this population might be underestimated. We ai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0fab35c908b4b63e1d45bbc982987e
https://doi.org/10.1038/s41598-020-68186-w
https://doi.org/10.1038/s41598-020-68186-w
Autor:
Szu Hui Chiang, Kwang-Jen Hsiao, Wen Jue Soong, Yen Chen Chang, Mei Jy Jeng, Hsin Ling Yeh, Yu Shih Shiau, Pei Chen Tsao, Po Huang Chiang
Publikováno v:
Archives of disease in childhood. 103(10)
ObjectiveTo investigate the burden of clinically significant neonatal jaundice (SNJ) in Taiwan, 2000–2010.Study designThe nationwide, population-based health insurance database in Taiwan was used to investigate the incidence, kernicterus rate and m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc15546830f992734c62b9aa571ee9d8
https://pubmed.ncbi.nlm.nih.gov/29472193
https://pubmed.ncbi.nlm.nih.gov/29472193
Autor:
Hung-Kun Chao, Szu-Hui Chiang, Victor Tramjay Fwu, Miao-Zeng Huang, Tsung-Sheng Su, Cheng-Yi Cheng, Ying Liang, Dau-Ming Niu, Kwang-Jen Hsiao
Publikováno v:
Journal of Human Genetics. 59:145-152
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01679501b664250968abab24a557815c
https://doi.org/10.1038/jhg.2013.136
https://doi.org/10.1038/jhg.2013.136
Autor:
Wen-Jue Soong, Jia-Kan Chang, Pei-Chen Tsao, Szu-Hui Chiang, Yuan-Fang Chung, Li-Ju Lin, Betau Hwang, Ming-Ren Chen, Hsiu-Lian Lin, Yu-Ling Liu, Yu-Shih Shiau, Hui-Chen Ho, Kwang-Jen Hsiao
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 4, p e0153407 (2016)
PLoS ONE, Vol 11, Iss 4, p e0153407 (2016)
Background Early detection of critical congenital heart disease (CCHD) can significantly reduce morbidity and mortality among newborns. We investigate the feasibility of implementing a community-based newborn CCHD screening program in Taipei. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c9771d898dae0255b47cae8c660525
https://pubmed.ncbi.nlm.nih.gov/27073996
https://pubmed.ncbi.nlm.nih.gov/27073996
Autor:
Wei Min Yu, Xiao Quing Liu, Szu Hui Chiang, Kuei Fen Wu, Sheng Feng Lu, Rui Guan Chen, Sheu Jen Wu, Kwang-Jen Hsiao, Tze Tze Liu
Publikováno v:
Human Mutation. 11:76-83
Hyperphenylalaninemia (HPA) may be caused by deficiency of phenylalanine hydroxylase or tetrahydrobiopterin (BH4), the essential cofactor for the aromatic amino acid hydroxylases. 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a major caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701e53fbafcffbf78ece843305d200de
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<76::aid-humu12>3.3.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:1<76::aid-humu12>3.3.co
Autor:
Yu Qi, Dau Ming Niu, Kwang-Jen Hsiao, Mei Chun Chao, Szu Hui Chiang, Yu Ting Teng, Mei Ying Liu, Ya Ling Fan, Shu Fen Lee, Lian Shu Han, Ying Chen Chang, Shio Jean Lin, Tze Tze Liu, Shuan-Pei Lin, Yang Ling Yang
Publikováno v:
JIMD Reports ISBN: 9783642281280
The mut-type methylmalonic aciduria (MMA, MIM 251000) is caused by a deficiency of mitochondrial methylmalonyl-CoA mutase (MCM, E.C. 5.4.99.2) activity, which results from defects in the MUT gene. To elucidate the mutation spectrum of the MUT gene in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dda306fef91c816036398d5d35e4f4
https://doi.org/10.1007/8904_2011_117
https://doi.org/10.1007/8904_2011_117
Autor:
Kwang-Jen Hsiao, Lian Shu Han, Yu Qi, Szu Hui Chiang, Shuan-Pei Lin, Tze Tze Liu, Mei Ying Liu, Yanling Yang, Ying Chen Chang
Publikováno v:
Journal of human genetics. 55(9)
The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837a8b836a89cd1bc9f9f62ab6a551fa
https://pubmed.ncbi.nlm.nih.gov/20631720
https://pubmed.ncbi.nlm.nih.gov/20631720