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Page 1
Reduced folate transport to the CNS in female Rett patients.
Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N. Ramaekers VT, et al. Among authors: fowler b. Neurology. 2003 Aug 26;61(4):506-15. doi: 10.1212/01.wnl.0000078939.64774.1b. Neurology. 2003. PMID: 12939425
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: fowler b. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathy.
Outteryck O, de Sèze J, Stojkovic T, Cuisset JM, Dobbelaere D, Delalande S, Lacour A, Cabaret M, Lepoutre AC, Deramecourt V, Zéphir H, Fowler B, Vermersch P. Outteryck O, et al. Among authors: fowler b. Neurology. 2012 Jul 24;79(4):386-8. doi: 10.1212/WNL.0b013e318260451b. Epub 2012 Jul 11. Neurology. 2012. PMID: 22786600 No abstract available.
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: fowler b. 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.
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. Among authors: fowler b. 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.
725 results