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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: kasper dc. Clin Chem. 2011 Sep;57(9):1286-94. doi: 10.1373/clinchem.2011.164640. Epub 2011 Jul 19. Clin Chem. 2011. PMID: 21771947
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
Okun JG, Gan-Schreier H, Ben-Omran T, Schmidt KV, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal AL, Haege G, Chiang CC, Kasper DC, Wilcken B, Burgard P, Hoffmann GF. Okun JG, et al. Among authors: kasper dc. JIMD Rep. 2017;32:87-94. doi: 10.1007/8904_2016_556. Epub 2016 Jun 21. JIMD Rep. 2017. PMID: 27325427 Free PMC article.
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: kasper dc. 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.
71 results