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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B. Huemer M, et al. Among authors: burda p. J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30. J Inherit Metab Dis. 2016. PMID: 26025547 Free PMC article.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR. Burda P, et al. J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. J Inherit Metab Dis. 2015. PMID: 25633902 Free article. Review.
Characterization of functional domains of the cblD (MMADHC) gene product.
Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR. Jusufi J, et al. Among authors: burda p. J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4. Epub 2014 Apr 11. J Inherit Metab Dis. 2014. PMID: 24722857 Free article.
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Marelli C, Lavigne C, Stepien KM, Janssen MCH, Feillet F, Kožich V, Jesina P, Schule R, Kessler C, Redonnet-Vernhet I, Regnier A, Burda P, Baumgartner M, Benoist JF, Huemer M, Mochel F; E-HOD Consortium. Marelli C, et al. Among authors: burda p. J Inherit Metab Dis. 2021 May;44(3):777-786. doi: 10.1002/jimd.12323. Epub 2020 Nov 2. J Inherit Metab Dis. 2021. PMID: 33089527
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR. Fettelschoss V, et al. Among authors: burda p. J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1. J Biol Chem. 2017. PMID: 28572511 Free PMC article.
107 results