Fowler B - Search Results

1

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin.

Friebel D, von der Hagen M, Baumgartner ER, Fowler B, Hahn G, Feyh P, Heubner G, Baumgartner MR, Hoffmann GF. Friebel D, et al. Among authors: fowler b. Neuropediatrics. 2006 Apr;37(2):72-8. doi: 10.1055/s-2006-924024. Neuropediatrics. 2006. PMID: 16773504

2

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: fowler b. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9. Am J Hum Genet. 2004. PMID: 15359379 Free PMC article.

3

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.

Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR. Dantas MF, et al. Among authors: fowler b. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9352. Hum Mutat. 2005. PMID: 16010683

4

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.

5

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR. Morscher RJ, et al. Among authors: fowler b. Mol Genet Metab. 2012 Apr;105(4):602-6. doi: 10.1016/j.ymgme.2011.12.018. Epub 2011 Dec 31. Mol Genet Metab. 2012. PMID: 22264772

6

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

7

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome.

Baykal T, Gokcay GH, Ince Z, Dantas MF, Fowler B, Baumgartner MR, Demir F, Can G, Demirkol M. Baykal T, et al. Among authors: fowler b. J Inherit Metab Dis. 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. J Inherit Metab Dis. 2005. PMID: 15877210

8

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER. Hörster F, et al. Among authors: fowler b. Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f. Pediatr Res. 2007. PMID: 17597648

9

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. Grünert SC, et al. Among authors: fowler b. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. Orphanet J Rare Dis. 2012. PMID: 22642865 Free PMC article.

10

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.

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