E.E.W. Jansen

20032020

Research output per year

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Research Output

  • 37 Article
  • 1 Chapter
  • 1 Comment/Letter to the editor

Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes (Metabolic Brain Disease, (2020), 35, 4, (601-614), 10.1007/s11011-020-00550-1)

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., Roullet, J. B. & Gibson, K. M., 1 Jan 2020, (Accepted/In press) In : METABOLIC BRAIN DISEASE. 35, 5, 2 p.

Research output: Contribution to journalComment/Letter to the editorAcademic

Open Access

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., Roullet, J. B. & Gibson, K. M., 1 Jan 2020, (Accepted/In press) In : METABOLIC BRAIN DISEASE. 35, 4, 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 1 Jul 2019, In : Human Mutation. 40, 7, p. 975-982 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism

Brown, M. N., Walters, D. C., Schmidt, M. A., Hill, J., McConnell, A., Jansen, E. E. W., Salomons, G. S., Arning, E., Bottiglieri, T., Gibson, K. M. & Roullet, J-B., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 1030-1039 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues

Walters, D. C., Arning, E., Bottiglieri, T., Jansen, E. E. W., Salomons, G. S., Brown, M. N., Schmidt, M. A., Ainslie, G. R., Roullet, J-B. & Gibson, K. M., 1 May 2019, In : Neurochemistry International. 125, p. 151-162

Research output: Contribution to journalArticleAcademicpeer-review