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Page 1
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Mills PB, Camuzeaux SS, Footitt EJ, Mills KA, Gissen P, Fisher L, Das KB, Varadkar SM, Zuberi S, McWilliam R, Stödberg T, Plecko B, Baumgartner MR, Maier O, Calvert S, Riney K, Wolf NI, Livingston JH, Bala P, Morel CF, Feillet F, Raimondi F, Del Giudice E, Chong WK, Pitt M, Clayton PT. Mills PB, et al. Among authors: baumgartner mr. Brain. 2014 May;137(Pt 5):1350-60. doi: 10.1093/brain/awu051. Epub 2014 Mar 18. Brain. 2014. PMID: 24645144 Free PMC article.
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302
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: baumgartner mr. 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.
Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
Rashka C, Hergalant S, Dreumont N, Oussalah A, Camadro JM, Marchand V, Hassan Z, Baumgartner MR, Rosenblatt DS, Feillet F, Guéant JL, Flayac J, Coelho D. Rashka C, et al. Among authors: baumgartner mr. Hum Mol Genet. 2020 Jul 29;29(12):1969-1985. doi: 10.1093/hmg/ddaa027. Hum Mol Genet. 2020. PMID: 32068834 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. 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
303 results