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pro vyhledávání: '"Nadine Spielmann"'
Autor:
Juan Antonio Aguilar-Pimentel, Thomas Klopstock, Eckhard Wolf, Carsten B. Schmidt-Weber, Julia Calzada-Wack, Ralph Fingerhut, Lore Becker, Marie Lucienne, Valerie Gailus-Durner, D. Sean Froese, Nadine Spielmann, Wolfgang Wurst, Philipp Mayer-Kuckuk, Birgit Rathkolb, Lillian Garrett, Martin Hrabě de Angelis, Déborah Mathis, Jan Rozman, Matthias R. Baumgartner, Merima Forny, Dirk H. Busch, Irina Treise, Patricia da Silva-Buttkus, Helmut Fuchs, Oana V. Amarie, Sabine M. Hölter
Publikováno v:
Biochimica et biophysica acta / Molecular basis of disease 1866(3), 165622 (2020). doi:10.1016/j.bbadis.2019.165622
Biochim. Biophys. Acta-Mol. Basis Dis. 1866:165622 (2020)
Biochim. Biophys. Acta-Mol. Basis Dis. 1866:165622 (2020)
Isolated methylmalonic aciduria (MMAuria) is primarily caused by deficiency of methylmalonyl-CoA mutase (MMUT or MUT). Biochemically, MUT deficiency results in the accumulation of methylmalonic acid (MMA), propionyl-carnitine (C3) and other metabolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c74a41bb0ba27f5045f882d95511bc