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Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
Körver-Keularts IMLW, Wang P, Waterval HWAH, Kluijtmans LAJ, Wevers RA, Langhans CD, Scott C, Habets DDJ, Bierau J. Körver-Keularts IMLW, et al. Among authors: habets ddj. J Inherit Metab Dis. 2018 May;41(3):415-424. doi: 10.1007/s10545-017-0129-0. Epub 2018 Feb 12. J Inherit Metab Dis. 2018. PMID: 29435781 Free PMC article.
Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype.
Hellebrekers DMEI, Sallevelt SCEH, Theunissen TEJ, Hendrickx ATM, Gottschalk RW, Hoeijmakers JGJ, Habets DD, Bierau J, Schoonderwoerd KG, Smeets HJM. Hellebrekers DMEI, et al. Eur J Hum Genet. 2017 Jun;25(7):886-888. doi: 10.1038/ejhg.2017.62. Epub 2017 Apr 26. Eur J Hum Genet. 2017. PMID: 28443623 Free PMC article.
15 results