Emmalie Jager, BSc

Search results

• 2022

  Plasma carnitine concentrations in Medium-Chain Acyl-CoA Dehydrogenase Deficiency: lessons from an observational cohort study

  Jager, E. A., Schaafsma, M., van der Klauw, M. M., Heiner-Fokkema, M. R. & Derks, T. G. J., Nov-2022, In: Journal of Inherited Metabolic Disease. 45, 6, p. 1118-1129 12 p.

  Research output: Contribution to journal › Article › Academic › peer-review

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  1 Citation (Scopus)

  18 Downloads (Pure)

• 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, E. A. & Derks, T. G. J., Nov-2022, In: Journal of Inherited Metabolic Disease. 45, 6, p. 1018-1027 10 p.

  Research output: Contribution to journal › Article › Academic › peer-review

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  1 Citation (Scopus)

  5 Downloads (Pure)
• 2020

  Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

  van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., Witters, P., & 4 othersWortmann, S. B., van Spronsen, F., Van Hove, J. L. K. & Derks, T. G. J., 6-Jan-2020, In: Genetics in Medicine. 22, 5, p. 908-916 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

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  14 Citations (Scopus)

  101 Downloads (Pure)
• 2019

  A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands

  Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Rubio-Gozalbo, M. E., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., Sept-2019, In: Journal of Inherited Metabolic Disease. 42, 5, p. 890-897 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

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  13 Citations (Scopus)

  147 Downloads (Pure)
• 2016

  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, W. J., Jager, E. A., Spronsen, van, F. J., de Koning, T., Heiner-Fokkema, M. R. & Derks, T. G. J., Dec-2016, In: Genetics in Medicine. 18, 12, p. 1322-1323 2 p.

  Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

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  2 Citations (Scopus)

  258 Downloads (Pure)