Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Tina Jui Ting Wu"'
Autor:
Dau-Ming Niu, Yung-Hsiu Lu, Li-Mei Cheng, Tina Jui-Ting Wu, Y.-H. Huang, Ming-Yu Lo, Hsiang-Yu Lin, Ting-Rong Hsu
Publikováno v:
Clinical Nutrition. 34:1155-1158
Many studies have reported that serum total homocysteine (tHcy) levels in cystathionine-beta-synthase (CBS) carriers are usually normal and only elevated after a methionine load. However, the amount of methionine required for a loading test is non-ph
Publikováno v:
Blood Cells, Molecules, and Diseases. 49:114-117
Recessive congenital methemoglobinemia (RCM) is a very rare disorder caused by NADH-cytochrome b5 reductase (cb5r) deficiency. Two distinct clinical forms, types I and II, caused by cb5r deficiency have been recognized. In type I, the enzyme deficien
Autor:
Yung-Hsiu Lu, Jer-Yuarn Wu, Andrew Lin, Tina Jui-Ting Wu, Ming-Yu Lo, Li-Mei Cheng, Y.-H. Huang, Dau-Ming Niu, Hsiao-Chi Yu, Ching-Yuang Lin, Ju-Hui Hsu
Publikováno v:
Molecular genetics and metabolism. 105(4)
The newborn screening of homocystinuria in Taiwan has never been formally reported before. Since 1984, out of 5 million newborns screened, only 3 newborns (Han Taiwanese) suffering from homocystinuria were detected in this newborn screening program.
Autor:
Ching-Yuang Lin, Chang-Long Tai, Shu Min Kao, Chiang-Chuan Chiang, Hsiao-Chi Yu, Y.-H. Huang, Chia-Feng Yang, Jan-Gowth Chang, Fang-Chih Tsai, Jeng-Hung Suen, Hung Chiang, Tina Jui-Ting Wu, Hong-Duo Chen, Mei-Ying Liu, Dau-Ming Niu
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 413(3-4)
Background As an X-linked genetic disorder, Fabry disease was first thought to affect males only, and females were generally considered to be asymptomatic carriers. However, recent research suggests that female carriers of Fabry disease may still dev
Autor:
Hsiang-Yu, Lin, Tina Jui-Ting, Wu, Ju-Hui, Hsu, Hsiao-Chi, Yu, Shuan-Pei, Lin, Chih-Kuang, Chuang, Cheng-Hung, Huang, Dau-Ming, Niu
Publikováno v:
Human genetics. 127(4)
Autor:
Dau Ming Niu, Hsiao Chi Yu, Tina Jui Ting Wu, Kah Wai Chong, Ju Hui Hsu, Ming Yu Lo, Lisa E. Kratz, Low Tone Ho, Cheng Hung Huang, Ching Fai Kwok
Publikováno v:
Journal of inherited metabolic disease. 33(4)
The clinical observation and treatment of young children with sitosterolemia has rarely been reported. We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families pr
Autor:
Robert N. Pike, Tang Yongqing, Adele Rene' Thomas, Tina Jui-Ting Wu, Felicity Kate Kerr, Thomas Ayrton Murray-Rust, Poh Chee Ong, Ineke C Wagenaar-Bos, Craig Freeman, Noelene Sheila Quinsey, James C. Whisstock
Publikováno v:
The Biochemical journal. 422(2)
The complement system plays crucial roles in the immune system, but incorrect regulation causes inflammation and targeting of self-tissue, leading to diseases such as systemic lupus erythematosus, rheumatoid arthritis and age-related macular degenera