Baumgartner MR - Search Results

1

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Plessl T, Bürer C, Lutz S, Yue WW, Baumgartner MR, Froese DS. Plessl T, et al. Among authors: baumgartner mr. Hum Mutat. 2017 Aug;38(8):988-1001. doi: 10.1002/humu.23251. Epub 2017 Jun 6. Hum Mutat. 2017. PMID: 28497574 Free article.

2

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

3

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

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

5

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Among authors: baumgartner mr. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930

6

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. Stucki M, et al. Among authors: baumgartner mr. Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8. Hum Mol Genet. 2012. PMID: 22156578 Free article.

7

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: baumgartner mr. 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

8

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: baumgartner mr. 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.

9

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C. Rohrbach M, et al. Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26. Mol Genet Metab. 2013. PMID: 23680354 Free PMC article.

10

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 mr, 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.

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