Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
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author: D. Sean Froese, Rossella Parini, Martina Huemer, Carlo Dionisi-Vici, Johannes Häberle, Klary E Niezen-Koning, Dariusz Rokicki, Jiri Zeman, Jiri Zeman, Matthias R Baumgartner, Patrick F. Chinnery, David Brian Fowler, Friedrich Trefz, Barbara Plecko, Ute Spiekerkoetter, Manuel Schiff, Jürgen-Christoph von Kleist-Retzow
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