Zobrazeno 1 - 10
of 466
pro vyhledávání: '"C3DC"'
Autor:
Jiayi Zhang, Gang Wu, Hailong Zhu, Fengyuan Yang, Shuman Yang, Vuong, Ann M., Jincheng Li, Demiao Zhu, Yiyan Sun, Wei Tao
Publikováno v:
Frontiers in Oncology; 7/7/2022, Vol. 12, p1-8, 8p
Publikováno v:
Metabolites (2218-1989); Jan2024, Vol. 14 Issue 1, p5, 12p
Autor:
Lee, Seung Hoon1 (AUTHOR), Ko, Jung Min1 (AUTHOR) jmko@snu.ac.kr, Song, Mi‐Kyoung1 (AUTHOR), Song, Junghan2 (AUTHOR), Park, Kyung Sun3 (AUTHOR)
Publikováno v:
Molecular Genetics & Genomic Medicine. Sep2020, Vol. 8 Issue 9, p1-5. 5p.
Autor:
Mamatha Ramaswamy, Victor Anthony Skrinska, Ghassan Abdoh, Laila Mahmoud Ahmed, Rola Fayez Mitri, Ravi Joshi
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 1, p 5 (2017)
Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS), this condition can be rea
Externí odkaz:
https://doaj.org/article/242709d9ee6a491098459baf301a50c9
Autor:
Hosseinkhani, Shaghayegh1,2 (AUTHOR), Arjmand, Babak3 (AUTHOR), Dilmaghani-Marand, Arezou4 (AUTHOR), Mohammadi Fateh, Sahar4 (AUTHOR), Dehghanbanadaki, Hojat5 (AUTHOR), Najjar, Niloufar6 (AUTHOR), Alavi-Moghadam, Sepideh6 (AUTHOR), Ghodssi-Ghassemabadi, Robabeh7 (AUTHOR), Nasli-Esfahani, Ensieh1 (AUTHOR), Farzadfar, Farshad4,8 (AUTHOR), Larijani, Bagher8 (AUTHOR), Razi, Farideh1,6 (AUTHOR) f-razi@tums.ac.ir
Publikováno v:
Scientific Reports. 5/19/2022, Vol. 12 Issue 1, p1-11. 11p.
Autor:
AKTUĞLU ZEYBEK, Ayşe Ciğdem1, KIYKIM, Ertuğrul1 ertugrulkiykim@hotmail.com, BARUT, Kenan2, ZÜBARİOĞLU, Tanyel1, CANSEVER, Mehmet Şerif3, KASAPÇOPUR, Özgür2
Publikováno v:
Turkish Journal of Medical Sciences. 2022, Vol. 52 Issue 3, p724-729. 6p.
Autor:
Mai, Manuel1 manuel.mai@medizin.uni-leipzig.de, Tönjes, Anke1, Kovacs, Peter2, Stumvoll, Michael1,2, Fiedler, Georg Martin3, Leichtle, Alexander Benedikt3
Publikováno v:
PLoS ONE. Dec2013, Vol. 8 Issue 12, p1-7. 7p.
Autor:
Sonia Pajares, J. Garcia-Villoria, Laura Gort, Ana Argudo-Ramírez, Olatz Ugarteburu, J.M. González De Aledo-Castillo, Antonia Ribes, J. A. Arranz, Frederic Tort, R.M. López, M.D. Casellas, Raúl Debesa Fernández, José Luis Marín, M. del Toro
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b97a5762017c7115787a61efed9d8d
http://europepmc.org/articles/PMC6940607
http://europepmc.org/articles/PMC6940607
Autor:
Xia, Fang-Ying1,2 (AUTHOR) fyxia@sibs.ac.cn, Zhu, Li2 (AUTHOR) zhuli@sibs.ac.cn, Xu, Chao1 (AUTHOR) chaoxu@163.com, Wu, Qing-Qing2 (AUTHOR) qqwu@sibs.ac.cn, Chen, Wan-Jia1 (AUTHOR) chenwj@163.com, Zeng, Rong2 (AUTHOR) zr@sibcb.ac.cn, Deng, Yue-Yi1 (AUTHOR) sh_dengyueyi@163.com
Publikováno v:
Nutrition & Metabolism. 1/8/2019, Vol. 16 Issue 1, p1-11. 11p. 5 Charts, 4 Graphs.