Baumgartner MR - Search Results

1

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: baumgartner mr. J Inherit Metab Dis. 2005;28(2):229-33. doi: 10.1007/s10545-005-4559-8. J Inherit Metab Dis. 2005. PMID: 15877210

2

Propionic acidemia: unusual course with late onset and fatal outcome.

Lücke T, Pérez-Cerdá C, Baumgartner M, Fowler B, Sander S, Sasse M, Scholl S, Ugarte M, Das AM. Lücke T, et al. Metabolism. 2004 Jun;53(6):809-10. doi: 10.1016/j.metabol.2003.12.025. Metabolism. 2004. PMID: 15164333

3

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.

4

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Baumgartner MR. Baumgartner MR. J Inherit Metab Dis. 2005;28(3):301-9. doi: 10.1007/s10545-005-7054-3. J Inherit Metab Dis. 2005. PMID: 15868465 Free article. Review.

5

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: baumgartner mr. Hum Mutat. 2005 Aug;26(2):164. doi: 10.1002/humu.9352. Hum Mutat. 2005. PMID: 16010683

6

Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult.

Boneh A, Baumgartner M, Hayman M, Peters H. Boneh A, et al. J Inherit Metab Dis. 2005;28(6):1139-40. doi: 10.1007/s10545-005-0163-1. J Inherit Metab Dis. 2005. PMID: 16435208

7

Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke.

Pinto L, Zen P, Rosa R, Paskulin G, Perla A, Barea L, Baumgartner MR, Dantas MF, Fowler B, Giugliani R, Vargas C, Wajner M, Graziadio C. Pinto L, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2006 Feb;29(1):205-6. doi: 10.1007/s10545-006-0188-0. J Inherit Metab Dis. 2006. PMID: 16601894

8

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 mr, baumgartner er. Neuropediatrics. 2006 Apr;37(2):72-8. doi: 10.1055/s-2006-924024. Neuropediatrics. 2006. PMID: 16773504

9

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 mr, 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

10

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302

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