Zobrazeno 1 - 2
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pro vyhledávání: '"Tzvetelina Lubenova Vammen"'
Autor:
Tobias Melton Axelsen, Tzvetelina Lubenova Vammen, Mads Bak, Nelsan Pourhadi, Christian Midtgaard Stenør, Sabine Grønborg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100782- (2021)
Background: Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is
Externí odkaz:
https://doaj.org/article/1cdb0af695f94429a8431d77930adec4
Autor:
Mads Bak, Nelsan Pourhadi, Christian Stenör, Sabine Grønborg, Tobias Melton Axelsen, Tzvetelina Lubenova Vammen
Publikováno v:
Molecular Genetics and Metabolism Reports
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Background Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is c