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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  Manuel Schiff  Johannes Häberle  Patrick F. Chinnery  Matthias R Baumgartner  Klary E Niezen-Koning  Friedrich Trefz  Martina Huemer  Dariusz Rokicki  David Brian Fowler  Carlo Dionisi-Vici  Rossella Parini  Barbara Plecko  Jiri Zeman  Ute Spiekerkoetter 

Publication date May 30, 2015
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