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Page 1
Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients.
BMC Biol. 2023 Sep 4;21(1):184. doi: 10.1186/s12915-023-01652-9.
BMC Biol. 2023.
PMID: 37667308
Free PMC article.
Towards values-based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders.
Venema A, Peeks F, Rossi A, Jager EA, Derks TGJ.
Venema A, et al. Among authors: jager ea.
J Inherit Metab Dis. 2022 Nov;45(6):1018-1027. doi: 10.1002/jimd.12555. Epub 2022 Sep 30.
J Inherit Metab Dis. 2022.
PMID: 36088581
Free PMC article.
Review.
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Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort study.
Jager EA, Schaafsma M, van der Klauw MM, Heiner-Fokkema MR, Derks TGJ.
Jager EA, et al.
J Inherit Metab Dis. 2022 Nov;45(6):1118-1129. doi: 10.1002/jimd.12537. Epub 2022 Jul 17.
J Inherit Metab Dis. 2022.
PMID: 35778950
Free PMC article.
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Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ.
van Rijt WJ, et al. Among authors: jager ea.
Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6.
Genet Med. 2020.
PMID: 31904027
Free PMC article.
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A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Jager EA, Kuijpers MM, Bosch AM, Mulder MF, Gozalbo ER, Visser G, de Vries M, Williams M, Waterham HR, van Spronsen FJ, Schielen PCJI, Derks TGJ.
Jager EA, et al.
J Inherit Metab Dis. 2019 Sep;42(5):890-897. doi: 10.1002/jimd.12102. Epub 2019 May 16.
J Inherit Metab Dis. 2019.
PMID: 31012112
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Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.
van Rijt WJ, Jager EA, van Spronsen FJ, de Koning T, Heiner-Fokkema MR, Derks TG.
van Rijt WJ, et al. Among authors: jager ea.
Genet Med. 2016 Dec;18(12):1322-1323. doi: 10.1038/gim.2016.149. Epub 2016 Sep 22.
Genet Med. 2016.
PMID: 27657689
Free article.
No abstract available.
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