Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
33例重度5,10-亚甲基四氢叶酸还原酶(MTHFR)缺乏症患者的临床表现、基因突变及体外残余活性分析
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-015-9860-6
Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; Froese, D Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F; Dionisi-Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A; Niezen-Koning, Klary E; Plecko, Barbara; Parini, Rossella; Rokicki, Dariusz; Schiff, Manuel; Schimmel, Mareike; Sewell, Adrian C; Sperl, Wolfgang; Spiekerkoetter, Ute; Steinmann, Beat; Taddeucci, Grazia; Trejo-Gabriel-Galán, Jose M; Trefz, Friedrich; Tsuji, Megumi; Vilaseca, María Antònia; von Kleist-Retzow, Jürgen-Christoph; Walker, Valerie; Zeman, Jiri; Baumgartner, Matthias R; Fowler, Brian