Baumgartner M - Search Results

1

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.

Remacle N, Forny P, Cudré-Cung HP, Gonzalez-Melo M, do Vale-Pereira S, Henry H, Teav T, Gallart-Ayala H, Braissant O, Baumgartner M, Ballhausen D. Remacle N, et al. Among authors: baumgartner m. Mol Genet Metab. 2018 Aug;124(4):266-277. doi: 10.1016/j.ymgme.2018.06.008. Epub 2018 Jun 18. Mol Genet Metab. 2018. PMID: 29934063

2

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.

Fiege B, Bonafé L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N. Fiege B, et al. Among authors: baumgartner m. Mol Genet Metab. 2005 Dec;86 Suppl 1:S91-5. doi: 10.1016/j.ymgme.2005.09.014. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290003

3

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Loupatty FJ, van der Steen A, Ijlst L, Ruiter JP, Ofman R, Baumgartner MR, Ballhausen D, Yamaguchi S, Duran M, Wanders RJ. Loupatty FJ, et al. Among authors: baumgartner mr. Mol Genet Metab. 2006 Mar;87(3):243-8. doi: 10.1016/j.ymgme.2005.09.019. Epub 2006 Feb 8. Mol Genet Metab. 2006. PMID: 16466957

4

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. 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

5

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Jäggi L, Zurflüh MR, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann GF, Ibel H, Wendel U, Ballhausen D, Baumgartner MR, Blau N. Jäggi L, et al. Among authors: baumgartner mr. Mol Genet Metab. 2008 Mar;93(3):295-305. doi: 10.1016/j.ymgme.2007.10.004. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18060820

6

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner MR, Rohrbach M. Zimmermann M, et al. Among authors: baumgartner mr. Mol Genet Metab. 2012 Jul;106(3):264-8. doi: 10.1016/j.ymgme.2012.04.016. Epub 2012 Apr 25. Mol Genet Metab. 2012. PMID: 22607939

7

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.

8

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.

9

Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Fischer S, et al. Among authors: baumgartner m. J Inherit Metab Dis. 2014 Sep;37(5):831-40. doi: 10.1007/s10545-014-9687-6. Epub 2014 Mar 6. J Inherit Metab Dis. 2014. PMID: 24599607

10

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Forny P, Froese DS, Suormala T, Yue WW, Baumgartner MR. Forny P, et al. Hum Mutat. 2014 Dec;35(12):1449-58. doi: 10.1002/humu.22633. Hum Mutat. 2014. PMID: 25125334 Free PMC article.

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