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Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.
Mechtler TP, Metz TF, Müller HG, Ostermann K, Ratschmann R, De Jesus VR, Shushan B, Di Bussolo JM, Herman JL, Herkner KR, Kasper DC. Mechtler TP, et al. Among authors: ratschmann r. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:9-17. doi: 10.1016/j.jchromb.2012.09.012. Epub 2012 Sep 24. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 23122395 Free PMC article.
Simplified newborn screening protocol for lysosomal storage disorders.
Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC. Metz TF, et al. Among authors: ratschmann r. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947
Long-term stability of amino acids and acylcarnitines in dried blood spots.
Strnadová KA, Holub M, Mühl A, Heinze G, Ratschmann R, Mascher H, Stöckler-Ipsiroglu S, Waldhauser F, Votava F, Lebl J, Bodamer OA. Strnadová KA, et al. Among authors: ratschmann r. Clin Chem. 2007 Apr;53(4):717-22. doi: 10.1373/clinchem.2006.076679. Epub 2007 Feb 1. Clin Chem. 2007. PMID: 17272485
Transcobalamin II deficiency at birth.
Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Ratschmann R, et al. Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6. Mol Genet Metab. 2009. PMID: 19581117
Recurrent acroparaesthesia during febrile infections.
Bodamer OA, Ratschmann R, Paschke E, Voigtländer T, Stöckler-Ipsiroglu S. Bodamer OA, et al. Among authors: ratschmann r. Lancet. 2004 May 22;363(9422):1698. doi: 10.1016/S0140-6736(04)16254-5. Lancet. 2004. PMID: 15158631 No abstract available.
11 results