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Peroxisomal disorders.
Baumgartner MR, Saudubray JM. Baumgartner MR, et al. Semin Neonatol. 2002 Feb;7(1):85-94. doi: 10.1053/siny.2001.0089. Semin Neonatol. 2002. PMID: 12069541 Review.
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Kiessling E, Nötzli S, Todorova V, Forny M, Baumgartner MR, Samardzija M, Krijt J, Kožich V, Grimm C, Froese DS. Kiessling E, et al. Among authors: baumgartner mr. Biochim Biophys Acta Mol Basis Dis. 2021 Oct 1;1867(10):166201. doi: 10.1016/j.bbadis.2021.166201. Epub 2021 Jun 17. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 34147638 Free article.
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: baumgartner er. J Clin Invest. 2001 Feb;107(4):495-504. doi: 10.1172/JCI11948. J Clin Invest. 2001. PMID: 11181649 Free PMC article.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR. Forny P, et al. Among authors: baumgartner mr. J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12. J Biol Chem. 2016. PMID: 27519416 Free PMC article.
785 results