Baumgartner MR - Search Results

1

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

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. 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

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

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

5

Management of phenylketonuria in Europe: survey results from 19 countries.

Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Blau N, et al. Mol Genet Metab. 2010 Feb;99(2):109-15. doi: 10.1016/j.ymgme.2009.09.005. Epub 2009 Sep 13. Mol Genet Metab. 2010. PMID: 19800826

6

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.

Fingerhut R, De Jesus Silva Arevalo G, Baumgartner MR, Häberle J, Rohrbach M, Figueroa AW, Fresse EM, Polanco OL, Torresani T. Fingerhut R, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S235-9. doi: 10.1007/s10545-010-9167-6. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652412

7

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

Rohrbach M, Klein A, Köhli-Wiesner A, Veraguth D, Scheer I, Balmer C, Lauener R, Baumgartner MR. Rohrbach M, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2010 Dec;33(6):751-7. doi: 10.1007/s10545-010-9209-0. Epub 2010 Sep 30. J Inherit Metab Dis. 2010. PMID: 20882352 Free article.

8

Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.

Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, Baumgartner M, Giunta C, Kariminejad A, Häberle J. Kretz R, et al. J Inherit Metab Dis. 2011 Jun;34(3):731-9. doi: 10.1007/s10545-011-9319-3. Epub 2011 Apr 13. J Inherit Metab Dis. 2011. PMID: 21487760

9

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.

Rohrbach M, Vandersteen A, Yiş U, Serdaroglu G, Ataman E, Chopra M, Garcia S, Jones K, Kariminejad A, Kraenzlin M, Marcelis C, Baumgartner M, Giunta C. Rohrbach M, et al. Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46. Orphanet J Rare Dis. 2011. PMID: 21699693 Free PMC article.

10

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

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