Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Vitoria Volfart"'
Autor:
Carmen Regla Vargas, Carmen Sousa, Gilian Guerreiro, Angela Sitta, Vitoria Volfart da Rocha, Laura Vilarinho, Bianca Gomes dos Reis, Daniella de Moura Coelho, Moacir Wajner
Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4951ddcd4e181ac06a961158c2f4b56d
https://hdl.handle.net/10400.18/7659
https://hdl.handle.net/10400.18/7659
Autor:
Carmen Regla Vargas, Bianca Gome dos Reis, Gabriel de Lima Rosa, Alana Pimentel Moura, Vitoria Volfart, Guilherme Baldo, Angela Sitta, Adriana Simon Coitinho, Esteban Alberto Gonzalez, Moacir Wajner, Gilian Guerreiro, Jéssica Lamberty Faverzani
Publikováno v:
Archives of Biochemistry and Biophysics. 709:108970
Glutaric acidemia type 1 (GA1) is caused by glutaryl-CoA dehydrogenase deficiency that leads to a blockage in the metabolic route of the amino acids lysine and tryptophan and subsequent accumulation of glutaric acid (GA), 3-hydroxyglutaric acids and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2298809dee03a368b6f5850507fb2af
https://doi.org/10.1016/j.abb.2021.108970
https://doi.org/10.1016/j.abb.2021.108970
Akademický článek
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Autor:
Sitta, Angela, Guerreiro, Gilian, de Moura Coelho, Daniella, da Rocha, Vitoria Volfart, dos Reis, Bianca Gomes, Sousa, Carmen, Vilarinho, Laura, Wajner, Moacir, Vargas, Carmen Regla
Publikováno v:
Metabolic Brain Disease; 2021, Vol. 36 Issue 2, p205-212, 8p