Fowler B - Search Results

1

Disturbed visual system function in methionine synthase deficiency.

Poloschek CM, Fowler B, Unsold R, Lorenz B. Poloschek CM, et al. Among authors: fowler b. Graefes Arch Clin Exp Ophthalmol. 2005 May;243(5):497-500. doi: 10.1007/s00417-004-1044-2. Epub 2004 Nov 18. Graefes Arch Clin Exp Ophthalmol. 2005. PMID: 15931548

2

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Fowler B, Schutgens RB, Rosenblatt DS, Smit GP, Lindemans J. Fowler B, et al. J Inherit Metab Dis. 1997 Nov;20(6):731-41. doi: 10.1023/a:1005372730310. J Inherit Metab Dis. 1997. PMID: 9427140

3

Methionine synthase deficiency without megaloblastic anaemia.

Kvittingen EA, Spangen S, Lindemans J, Fowler B. Kvittingen EA, et al. Among authors: fowler b. Eur J Pediatr. 1997 Dec;156(12):925-30. doi: 10.1007/s004310050744. Eur J Pediatr. 1997. PMID: 9453374

4

Defects in human methionine synthase in cblG patients.

Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banerjee R. Gulati S, et al. Among authors: fowler b. Hum Mol Genet. 1996 Dec;5(12):1859-65. doi: 10.1093/hmg/5.12.1859. Hum Mol Genet. 1996. PMID: 8968736

5

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Among authors: fowler b. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

6

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL. Fofou-Caillierez MB, et al. Among authors: fowler b. Hum Mol Genet. 2013 Nov 15;22(22):4591-601. doi: 10.1093/hmg/ddt308. Epub 2013 Jul 3. Hum Mol Genet. 2013. PMID: 23825108

7

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.

8

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.

9

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

Linnebank M, Lagler F, Muntau AC, Röschinger W, Olgemöller B, Fowler B, Koch HG. Linnebank M, et al. Among authors: fowler b. J Inherit Metab Dis. 2005;28(6):1167-8. doi: 10.1007/s10545-005-4497-5. J Inherit Metab Dis. 2005. PMID: 16435220

10

The folate cycle and disease in humans.

Fowler B. Fowler B. Kidney Int Suppl. 2001 Feb;78:S221-9. doi: 10.1046/j.1523-1755.2001.59780221.x. Kidney Int Suppl. 2001. PMID: 11169015 Free article. Review.

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