Zobrazeno 1 - 10
of 1 135
pro vyhledávání: '"argininosuccinate synthetase"'
Autor:
Xia Gu, Wenhui Mo, Guiying Zhuang, Congcong Shi, Tao Wei, Jinze Zhang, Chiaowen Tu, Yao Cai, Biwen Liao, Hu Hao
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
BackgroundCitrullinemia type I disorders (CTLN1) is a genetic metabolic disease caused by argininosuccinate synthetase (ASS1) gene mutation. To date, the human genome mutation database has documented over 100 variants of the ASS1 gene. This study rep
Externí odkaz:
https://doaj.org/article/fef7363ea22940c89733660837275fd3
Autor:
Roeksomtawin, Somphon1,2, Navasumrit, Panida1,2,3, Waraprasit, Somchamai1, Parnlob, Varabhorn1, Sricharunrat, Thaniya4, Bhudhisawasdi, Vajarabhongsa5,6, Savaraj, Niramol7 nsavaraj@med.miami.edu, Ruchirawat, Mathuros1,2,3 mathuros@cri.or.th
Publikováno v:
Oncology Letters. Aug2018, Vol. 16 Issue 2, p1529-1538. 10p.
Autor:
Herrera Sanchez, Maria Beatriz1,2, Previdi, Sara3, Bruno, Stefania4, Fonsato, Valentina1,2, Deregibus, Maria Chiara1,2, Kholia, Sharad2, Petrillo, Sara4, Tolosano, Emanuela4, Critelli, Rossana5, Spada, Marco6, Romagnoli, Renato7, Salizzoni, Mauro7, Tetta, Ciro8, Camussi, Giovanni9 giovanni.camussi@unito.it
Publikováno v:
Stem Cell Research & Therapy. 7/27/2017, Vol. 8, p1-15. 15p.
Autor:
Liu, Qingqing1, Stewart, John1, Wang, Hua2 hmwang@mdanderson.org, Rashid, Asif1, Zhao, Jun1, Katz, Matthew H.3, Lee, Jeffrey E.3, Fleming, Jason B.3, Maitra, Anirban1, Wolff, Robert A.2, Varadhachary, Gauri R.2, Krishnan, Sunil4, Wang, Huamin1
Publikováno v:
PLoS ONE. 2/10/2017, Vol. 12 Issue 2, p1-13. 13p.
Autor:
Sardar, Abul Hasan1, Jardim, Armando2, Ghosh, Ayan Kumar1, Mandal, Abhishek1, Das, Sushmita3, Saini, Savita4, Abhishek, Kumar1, Singh, Ruby1, Verma, Sudha1, Kumar, Ajay1, Das, Pradeep1 drpradeep.das@gmail.com
Publikováno v:
PLoS Neglected Tropical Diseases. 3/3/2016, Vol. 10 Issue 3, p1-25. 25p.
Autor:
Rabinovich, Shiran1, Adler, Lital1, Yizhak, Keren2, Sarver, Alona1, Silberman, Alon1, Agron, Shani1, Stettner, Noa1, Sun, Qin3, Brandis, Alexander4, Helbling, Daniel5, Korman, Stanley6, Itzkovitz, Shalev7, Dimmock, David5, Ulitsky, Igor1, Nagamani, Sandesh C. S., Ruppin, Eytan, Erez, Ayelet1
Publikováno v:
Nature. 11/19/2015, Vol. 527 Issue 7578, p379-383. 5p. 2 Charts, 8 Graphs.
Autor:
Shih-Chang Shiue1 benson.shiue@gmail.com, Miao-Zeng Huang2 mzhuang@vghtpe.gov.tw, Ting-Fen Tsai3 tftsai@ym.edu.tw, Chien Chang, Alice4 acchang@ym.edu.tw, Kong Bung Choo5,6 chookb@utar.edu.my, Chiu-Jung Huang7,8 hqr2@faculty.pccu.edu.tw, Tsung-Sheng Su1,2,3 su31659@gmail.com
Publikováno v:
Journal of Biomedical Science. 2015, Vol. 22 Issue 1, p190-215. 26p. 6 Color Photographs.
Akademický článek
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Autor:
Audrey Pontrucher, Magalie Barth, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the arg
Externí odkaz:
https://doaj.org/article/cd35a949a14f4db5832513d31d726942
Autor:
Jiangbo Liu1,2, Jiguang Ma3, Zheng Wu1, Wei Li1, Dong Zhang1, Liang Han1, Fengfei Wang4, Reindl, Katie M.5, Erxi Wu4, Qingyong Ma1 qyma56@mail.xjtu.edu.cn
Publikováno v:
BMC Cancer. 9/20/2014, Vol. 14, p1-17. 17p. 2 Charts, 8 Graphs.