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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.
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Peduto A, Baumgartner MR, Verhoeven NM, Rabier D, Spada M, Nassogne MC, Poll-The BT, Bonetti G, Jakobs C, Saudubray JM. Peduto A, et al. Among authors: baumgartner mr. Mol Genet Metab. 2004 Jul;82(3):224-30. doi: 10.1016/j.ymgme.2004.04.010. Mol Genet Metab. 2004. PMID: 15234336
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C. Huemer M, et al. Among authors: baumgartner mr. J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. J Inherit Metab Dis. 2017. PMID: 27905001 Free PMC article. Review.
319 results