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Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
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.
Targeted urine metabolomics with a graphical reporting tool for rapid diagnosis of inborn errors of metabolism.
Steinbusch LKM, Wang P, Waterval HWAH, Stassen FAPM, Coene KLM, Engelke UFH, Habets DDJ, Bierau J, Körver-Keularts IMLW.
Steinbusch LKM, et al. Among authors: waterval hwah.
J Inherit Metab Dis. 2021 Sep;44(5):1113-1123. doi: 10.1002/jimd.12385. Epub 2021 May 6.
J Inherit Metab Dis. 2021.
PMID: 33843072
Free PMC article.
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Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Merx J, van Outersterp RE, Engelke UFH, Hendriks V, Wevers RA, Huigen MCDG, Waterval HWAH, Körver-Keularts IMLW, Mecinović J, Rutjes FPJT, Oomens J, Coene KLM, Martens J, Boltje TJ.
Merx J, et al. Among authors: waterval hwah.
Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2.
Commun Biol. 2022.
PMID: 36131087
Free PMC article.
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