Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Miaojuan Wu"'
Autor:
Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang, Yuanyuan Zhu
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different pathogenic mutations
Externí odkaz:
https://doaj.org/article/069ce8503aa948d08bfd7b599fb27f56
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
Abstract Background Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations are often charact
Externí odkaz:
https://doaj.org/article/890d66fe43e3409aab4c600137d1f336
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
BMC Neurology, Vol 20, Iss 1, Pp 1-8 (2020)
Background Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations are often characterised by
Autor:
Yongchu Liu, Miaojuan Wu, Dan Sun, Fang Fang, Liang Song, Yuanyuan Zhu, Zhisheng Liu, Zhimei Liu, Xianbo Deng, Kei Murayama, Chunhua Zhang
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-12 (2020)
Background Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different pathogenic mutations have been