日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency

对导致甲基丙二酰辅酶A差向异构酶缺乏症的致病变异进行遗传、结构和功能分析

Heuberger, Kathrin; Bailey, Henry J; Burda, Patricie; Chaikuad, Apirat; Krysztofinska, Ewelina; Suormala, Terttu; Bürer, Céline; Lutz, Seraina; Fowler, Brian; Froese, D Sean; Yue, Wyatt W; Baumgartner, Matthias R

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

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

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

导致甲基丙二酰辅酶A变位酶(MUT)缺乏的错义突变的功能表征和分类

Forny, Patrick; Froese, D Sean; Suormala, Terttu; Yue, Wyatt W; Baumgartner, Matthias R

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

丙酸血症:55例儿童和青少年患者的临床病程和预后

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

孤立性 3-甲基巴豆酰辅酶A羧化酶缺乏症:等位基因特异性显性负效应和对生物素治疗的反应的证据

Baumgartner Matthias R, Dantas M Fernanda, Suormala Terttu, Almashanu Shlomo, Giunta Cecilia, Friebel Dolores, Gebhardt Boris, Fowler Brian, Hoffmann Georg F, Baumgartner E Regula, Valle David