Fowler B - Search Results

1

5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

Suormala T, Gamse G, Fowler B. Suormala T, et al. Among authors: fowler b. Clin Chem. 2002 Jun;48(6 Pt 1):835-43. Clin Chem. 2002. PMID: 12028998

2

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: fowler b. J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14. J Inherit Metab Dis. 2017. PMID: 27743313

3

Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion.

Suormala T, Wiesmann UN, Cruz F, Wolf A, Daschner M, Limat A, Fowler B, Baumgartner ER. Suormala T, et al. Among authors: fowler b. Int J Vitam Nutr Res. 2002 Jul;72(4):278-86. doi: 10.1024/0300-9831.72.4.278. Int J Vitam Nutr Res. 2002. PMID: 12214565 Free article.

4

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. Suormala T, et al. Among authors: fowler b. J Biol Chem. 2004 Oct 8;279(41):42742-9. doi: 10.1074/jbc.M407733200. Epub 2004 Aug 2. J Biol Chem. 2004. PMID: 15292234 Free article.

5

Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.

Stucki M, Suormala T, Fowler B, Valle D, Baumgartner MR. Stucki M, et al. Among authors: fowler b. J Biol Chem. 2009 Oct 16;284(42):28953-7. doi: 10.1074/jbc.M109.050674. Epub 2009 Aug 24. J Biol Chem. 2009. PMID: 19706617 Free PMC article.

6

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Burda P, et al. Among authors: fowler b. Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25736335

7

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: fowler b. 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.

8

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR. Froese DS, et al. Among authors: fowler b. Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26872964

9

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy.

Suormala T, Fowler B, Jakobs C, Duran M, Lehnert W, Raab K, Wick H, Baumgartner ER. Suormala T, et al. Among authors: fowler b. Eur J Pediatr. 1998 Jul;157(7):570-5. doi: 10.1007/s004310050881. Eur J Pediatr. 1998. PMID: 9686819

10

Biotinidase Km-variants: detection and detailed biochemical investigations.

Suormala T, Ramaekers VT, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER. Suormala T, et al. Among authors: fowler b. J Inherit Metab Dis. 1995;18(6):689-700. doi: 10.1007/BF02436758. J Inherit Metab Dis. 1995. PMID: 8750606

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