Baumgartner MR - Search Results

1

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.

Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gökcay G, Grünewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Müller E, Kölker S, Hörster F. Zwickler T, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2008 Jun;31(3):361-7. doi: 10.1007/s10545-008-0804-2. Epub 2008 May 27. J Inherit Metab Dis. 2008. PMID: 18563634

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

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: baumgartner mr. 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.

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

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

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

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

9

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

10

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. Among authors: baumgartner mr. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.

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