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Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis by Lucie Mádrová, Olga Součková, Radana Brumarová, Dana Dobešová, Jan Václavík, Štěpán Kouřil, Julie de Sousa, Jaroslava Friedecká, David Friedecký, Veronika Barešová, Marie Zikánová, Tomáš Adam
Published 2022-03-01
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A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency by Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Published 2020-07-01
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