Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Yung Hsiu Lu"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101151- (2024)
Recurrent rhabdomyolysis, marked by skeletal muscle breakdown, can stem from various causes, including genetic disorders. We detail a patient of a 22-year-old male with carnitine palmitoyltransferase II (CPT-2) deficiency manifesting recurrent rhabdo
Externí odkaz:
https://doaj.org/article/93a83ab7b04e4c368ec87a964dbfed8d
Publikováno v:
Cornea: The Journal of Cornea & External Disease; Apr2024, Vol. 43 Issue 4, p404-408, 5p
Publikováno v:
Botanica Marina. 64:71-80
Unicellular algae have evolved to express many forms of high-affinity phosphate transporters, and homologs of these proteins are broadly distributed in yeast, fungi, higher plants, and vertebrates. In this report, an effort has been made to character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81bdbf4365fdcc3903be05c0e5a33dad
https://doi.org/10.1515/bot-2020-0037
https://doi.org/10.1515/bot-2020-0037
Autor:
Kung-Hao Liang, Chia-Feng Yang, Yung-Hsiu Lu, Ting-Rong Hsu, Sheng-Kai Chang, Dau-Ming Niu, Chih-Ya Cheng, Yun-Ru Chen, Chih-Wei Niu, Kimitoshi Nakamura
Publikováno v:
Journal of Human Genetics. 65:619-625
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2676cf167702f466e8eb3a8ee9c8c7f4
https://doi.org/10.1038/s10038-020-0745-7
https://doi.org/10.1038/s10038-020-0745-7
Publikováno v:
Molecular Genetics and Metabolism. 138:107054
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::548dccc4d8e8bf32299ac4f3986ebfe5
https://doi.org/10.1016/j.ymgme.2022.107054
https://doi.org/10.1016/j.ymgme.2022.107054
Autor:
Ivan Dzhagalov, Yen Feng Wang, Wen Chung Yu, Po Hsun Huang, Dau Ming Niu, Yung Hsiu Lu, Chia Lin Hsu, Sheng Kai Chang, Ming Jia Hsu, Han Jui Lee, Ting-Rong Hsu, Yu Chen Wang, An Hang Yang, Sheng-Che Hung, Shih Hsien Sung, Fu Pang Chang
Publikováno v:
Genetics in Medicine. 21:224-232
Evaluation standards and treatment initiation timing have been debated for a long time, particularly for late-onset Fabry disease (FD), because of its slow progression. However, early initiation of enzyme replacement therapy (ERT) for FD could be eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac37f60a5443c36333d5e64ffc001cfc
https://doi.org/10.1038/s41436-018-0010-z
https://doi.org/10.1038/s41436-018-0010-z
Autor:
Ya Ting Lee, Yu Chen Wang, Hui Chen Ho, Ping Hsun Ho, Yung Hsiu Lu, Pi Chang Lee, Po Hsun Huang, Li Yun Wang, Ting-Rong Hsu, Hsing Yuan Li, Sheng Kai Chang, Sheng-Che Hung, Yu Ping Hsieh, Dau Ming Niu
Publikováno v:
Journal of Human Genetics. 63:1-8
Many female carriers of Fabry disease are likely to develop severe morbidity and mortality. However, by our own estimation, around 80% of female newborns are missed by our current enzyme-based screening approach. Our team’s aim was to develop an im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ed466909fdc7b937fe123d93f29e6a2
https://doi.org/10.1038/s10038-017-0366-y
https://doi.org/10.1038/s10038-017-0366-y
Autor:
Yung-Hsiu Lu, An-Guor Wang, Fang-Chih Tsai, Dau-Ming Niu, Chih-Jou Lai, Shu-Chen Hsieh, Ping-Hsun Ho, Min-Chieh Lin, Ju-Shan Pai, Ming-Tzu Tsai, Ya-Chin Chuang, Ming-Che Lee, Han-Jui Lee, Ling-Yee Cheng, Chia-Feng Yang, Tzu-Hung Chu, Ting-Rong Hsu
Publikováno v:
Journal of the Chinese Medical Association, Vol 80, Iss 4, Pp 253-261 (2017)
Background Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting is lacking. This study describes Taiwan's largest ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ea5e9edee561c4ff5579de03c0a1900
Autor:
Ting-Rong Hsu, Ya-Ting Lee, Chih-Ya Cheng, Chia-Feng Yang, Sheng-Kai Chang, Dau-Ming Niu, Tzu-Hung Chu, Yun-Ru Chen, Yung-Hsiu Lu
Publikováno v:
Molecular Genetics and Metabolism. 129:S117-S118
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d2fe6fe47d8e01e4b50ff478c0d902d
https://doi.org/10.1016/j.ymgme.2019.11.304
https://doi.org/10.1016/j.ymgme.2019.11.304
Autor:
Hsing-Yuan Li, Chia-Feng Yang, Ting-Rong Hsu, Yung-Hsiu Lu, Shih-Hsien Sung, Hui-Chen Ho, Tsan-Chieh Liao, Robert J. Desnick, Wen-Chung Yu, Sheng-Kai Chang, Ivan Dzhagalov, Chuan-Chi Chiang, An-Hang Yang, Hsiang-Yu Lin, Tzu-Hung Chu, Han-Jui Lee, Dau-Ming Niu, Sheng-Che Hung, Hsuan-Chieh Liao, Chia Lin Hsu, Fu-Pang Chang, Ching-Yuang Lin, Pi-Chang Lee
Publikováno v:
Journal of the American College of Cardiology. 68:2554-2563
Background Recently, several studies revealed a much higher prevalence of later onset Fabry disease (FD) than previously expected. It suggested that later onset FD might present as an important hidden health issue in certain ethnic or demographic pop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ec5125229a52e83de7785dbe4e3d0dc
https://doi.org/10.1016/j.jacc.2016.09.943
https://doi.org/10.1016/j.jacc.2016.09.943