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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2016 | 1 |
2018 | 1 |
2020 | 2 |
2021 | 2 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
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Page 1
Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.
Commun Biol. 2022 Sep 21;5(1):997. doi: 10.1038/s42003-022-03960-2.
Commun Biol. 2022.
PMID: 36131087
Free PMC article.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira EA, Veenvliet ARJ, Engelke UFH, Kluijtmans LAJ, Huigen MCDG, Hoegen B, de Boer L, de Vries MC, van Bon BW, Leenders E, Cornelissen EAM, Haaxma CA, Schieving JH, Rubio-Gozalbo ME, Körver-Keularts IMLW, Marten LM, Diegmann S, Mourmans J, Rennings AJM, van Karnebeek CDM, Rodenburg RJ, Coene KLM.
Ferreira EA, et al. Among authors: korver keularts imlw.
Genet Med. 2023 Jan;25(1):125-134. doi: 10.1016/j.gim.2022.10.002. Epub 2022 Nov 9.
Genet Med. 2023.
PMID: 36350326
Free article.
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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: korver keularts imlw.
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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Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG.
Coene KLM, et al. Among authors: korver keularts imlw.
JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar.
JIMD Rep. 2020.
PMID: 33728249
Free PMC article.
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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
van Ginkel WG, Jahja R, Huijbregts SC, Daly A, MacDonald A, De Laet C, Cassiman D, Eyskens F, Körver-Keularts IM, Goyens PJ, McKiernan PJ, van Spronsen FJ.
van Ginkel WG, et al. Among authors: korver keularts im.
Orphanet J Rare Dis. 2016 Jun 29;11(1):87. doi: 10.1186/s13023-016-0472-5.
Orphanet J Rare Dis. 2016.
PMID: 27356512
Free PMC article.
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Impaired iloprost-induced platelet inhibition and phosphoproteome changes in patients with confirmed pseudohypoparathyroidism type Ia, linked to genetic mutations in GNAS.
Swieringa F, Solari FA, Pagel O, Beck F, Huang J, Feijge MAH, Jurk K, Körver-Keularts IMLW, Mattheij NJA, Faber J, Pohlenz J, Russo A, Stumpel CTRM, Schrander DE, Zieger B, van der Meijden PEJ, Zahedi RP, Sickmann A, Heemskerk JWM.
Swieringa F, et al. Among authors: korver keularts imlw.
Sci Rep. 2020 Jul 9;10(1):11389. doi: 10.1038/s41598-020-68379-3.
Sci Rep. 2020.
PMID: 32647264
Free PMC article.
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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.
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.
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