Fowler B - Search Results

1

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

2

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation.

Rummel T, Suormala T, Häberle J, Koch HG, Berning C, Perrett D, Fowler B. Rummel T, et al. Among authors: fowler b. J Inherit Metab Dis. 2007 Jun;30(3):401. doi: 10.1007/s10545-007-0445-x. Epub 2007 Apr 25. J Inherit Metab Dis. 2007. PMID: 17457696

3

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

Gailus S, Suormala T, Malerczyk-Aktas AG, Toliat MR, Wittkampf T, Stucki M, Nürnberg P, Fowler B, Hennermann JB, Rutsch F. Gailus S, et al. Among authors: fowler b. J Inherit Metab Dis. 2010 Feb;33(1):17-24. doi: 10.1007/s10545-009-9032-7. Epub 2010 Feb 3. J Inherit Metab Dis. 2010. PMID: 20127417

4

Disorders of homocysteine metabolism.

Fowler B. Fowler B. J Inherit Metab Dis. 1997 Jun;20(2):270-85. doi: 10.1023/a:1005369109055. J Inherit Metab Dis. 1997. PMID: 9211199 Review.

5

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

6

CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.

Zavadakova P, Fowler B, Zeman J, Suormala T, Pristoupilová K, Kozich V, Zavad'áková P. Zavadakova P, et al. Among authors: fowler b. J Inherit Metab Dis. 2002 Oct;25(6):461-76. doi: 10.1023/a:1021299117308. J Inherit Metab Dis. 2002. PMID: 12555939

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

Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease.

Linnebank M, Linnebank A, Jeub M, Klockgether T, Wüllner U, Kölsch H, Heun R, Koch HG, Suormala T, Fowler B. Linnebank M, et al. Among authors: fowler b. Am J Med Genet A. 2004 Nov 15;131(1):101-2. doi: 10.1002/ajmg.a.30295. Am J Med Genet A. 2004. PMID: 15389705 No abstract available.

9

Causes of and diagnostic approach to methylmalonic acidurias.

Fowler B, Leonard JV, Baumgartner MR. Fowler B, et al. J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi: 10.1007/s10545-008-0839-4. Epub 2008 Jun 19. J Inherit Metab Dis. 2008. PMID: 18563633 Review.

10

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

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