Baumgartner ER - 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: baumgartner er. 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: baumgartner er. 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

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: baumgartner er. Eur J Pediatr. 1998 Jul;157(7):570-5. doi: 10.1007/s004310050881. Eur J Pediatr. 1998. PMID: 9686819

4

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: baumgartner er. Pediatr Res. 2007 Aug;62(2):225-30. doi: 10.1203/PDR.0b013e3180a0325f. Pediatr Res. 2007. PMID: 17597648

5

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: baumgartner er. J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948. J Clin Invest. 2001. PMID: 11181649 Free PMC article.

6

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.

Lempp TJ, Suormala T, Siegenthaler R, Baumgartner ER, Fowler B, Steinmann B, Baumgartner MR. Lempp TJ, et al. Among authors: baumgartner er. Mol Genet Metab. 2007 Mar;90(3):284-90. doi: 10.1016/j.ymgme.2006.10.002. Epub 2006 Nov 20. Mol Genet Metab. 2007. PMID: 17113806

7

Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Steen C, Baumgartner ER, Duran M, Lehnert W, Suormala T, Fingerhut R, Stehn M, Kohlschütter A. Steen C, et al. Among authors: baumgartner er. Eur J Pediatr. 1999 Sep;158(9):730-3. doi: 10.1007/s004310051189. Eur J Pediatr. 1999. PMID: 10485305

8

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Haas D, Niklowitz P, Hörster F, Baumgartner ER, Prasad C, Rodenburg RJ, Hoffmann GF, Menke T, Okun JG. Haas D, et al. Among authors: baumgartner er. J Inherit Metab Dis. 2009 Aug;32(4):570-5. doi: 10.1007/s10545-009-1150-8. Epub 2009 Jun 7. J Inherit Metab Dis. 2009. PMID: 19504350

9

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR. Haarmann A, et al. Among authors: baumgartner er. Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17. Mol Genet Metab. 2013. PMID: 24095221 Free article.

10

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Lehnert W, Niederhoff H, Suormala T, Baumgartner ER. Lehnert W, et al. Among authors: baumgartner er. Eur J Pediatr. 1996 Jul;155(7):568-72. doi: 10.1007/BF01957906. Eur J Pediatr. 1996. PMID: 8831079

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

71 results

Search Page

Filters