Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Yu-Yuan Ke"'
Autor:
Rai-Hseng Hsu, Wei-De Lin, Mei-Chyn Chao, Hui-Pin Hsiao, Siew-Lee Wong, Pao-Chin Chiu, Shao-Yin Chu, Yu-Yuan Ke, Beng-Huat Lau, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Chung-Hsing Wang, Ni-Chung Lee
Publikováno v:
Journal of the Formosan Medical Association, Vol 118, Iss 1, Pp 142-147 (2019)
Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenot
Externí odkaz:
https://doaj.org/article/ebefc780d6ae484f93b3268cb1cbfd97
Autor:
Kuan-Jung Chen, Hsin-Ru Wu, Mei-Chyn Chao, Tung-Ming Chang, Jien-Wen Chien, Ming Chen, Gwo-Chin Ma, Yu-Yuan Ke
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss 3, Pp 327-328 (2021)
Externí odkaz:
https://doaj.org/article/1c5e63f0876a41c69b5c01da4c7fc7b6
Autor:
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, Yin-Hsiu Chien, Yu-Mei Wang, Fuu-Jen Tsai, Yen-Yin Chou, Shio Jean Lin, Hui-Ping Pan, Dau-Ming Niu, Wuh-Liang Hwu, Yu-Yuan Ke, Shuan-Pei Lin
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 63-69 (2016)
Background: Information regarding the long-term outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB, galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.) for Taiwanese patients with mucopolysa
Externí odkaz:
https://doaj.org/article/cbafc94b23c64b3babfbf52a9ad0bbf7
Autor:
Jun-Kai Kao, Shih-Chung Wang, Li-Wei Ho, Shi-Wei Huang, Shu-Hao Chang, Rei-Cheng Yang, Yu-Yuan Ke, Chun-Ying Wu, Jiu-Yao Wang, Jeng-Jer Shieh
Publikováno v:
PLoS ONE, Vol 11, Iss 5, p e0156713 (2016)
Iron is essential for living organisms and the disturbance of iron homeostasis is associated with altered immune function. Additionally, bacterial infections can cause major complications in instances of chronic iron overload, such as patients with t
Externí odkaz:
https://doaj.org/article/f5d7729f3e51418aa363c834b7aed4d3
Publikováno v:
Pediatrics and Neonatology, Vol 51, Iss 6, Pp 363-366 (2010)
CHARGE syndrome is a multisystemic disorder comprising colobomas, heart defects, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies and deafness. The CHD7 gene on chromosome 8q12.1 was recently shown to be a major gen
Externí odkaz:
https://doaj.org/article/92937309d86b4d3795a9996c72c3ef29
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 6, Pp 240-244 (2008)
Cystic fibrosis (CF) is considered to be a rare disease in Asians. We report two cases of CF in a 5-year-old girl and her newborn brother. They are of mixed parentage: a Taiwanese mother and an Australian father. Methods: A comprehensive mutational a
Externí odkaz:
https://doaj.org/article/79dd66ea83ed48eb93454f565e6bcedb
Publikováno v:
Journal of the Formosan Medical Association, Vol 106, Iss 7, Pp 582-588 (2007)
Gain or loss of a fragment in human chromosomes has been associated with abnormal phenotypes in numerous genetic disorders. However, it is also possible that lack or excess of a particular chromosomal segment is a neutral polymorphism among populatio
Externí odkaz:
https://doaj.org/article/506e1557c751489fafcd764de000c0f2
Autor:
Yu-yuan Ke, 柯瑜媛
96
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac heart defects, and skeletal malformations. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene on chr
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac heart defects, and skeletal malformations. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene on chr
Externí odkaz:
http://ndltd.ncl.edu.tw/handle/32095823557316433778
Autor:
Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan Ke
Publikováno v:
International Journal of Medical Sciences; 2024, Vol. 21 Issue 5, p784-794, 11p
Autor:
PEN-HUA SU, JU-SHAN YU, YU-ZHEN WU, YU-SHEN TSAI, FU-SUNG LO, JU-LI LIN, MEI-CHYN CHAO, CHIA-CHI HSU, YU-YUAN KE, PAO-CHIN CHIU, JO-CHING CHEN, YING-HUA HUANG, SHUAN-PEI LIN, YEN-YIN CHOU, WEI-HSIN TING, SHUO-YU WANG, CHIAO-FAN CHIU, YEN-CHUN HUANG, HUI-PIN HSIAO, CHAO-HSU LIN
Publikováno v:
In Vivo; Jan/Feb2024, Vol. 38 Issue 1, p341-350, 10p