E.E.W. Jansen

20032019
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Research Output 2003 2019

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

Pre-analytical stability of novel cerebrospinal fluid biomarkers

Willemse, E. A. J., Vermeiren, Y., Garcia-Ayllon, M-S., Bridel, C., De Deyn, P. P., Engelborghs, S., van der Flier, W. M., Jansen, E. E. W., Lopez-Font, I. B., Mendes, V., Manadas, B., de Roeck, N., Saez-Valero, J., Struys, E. A., Vanmechelen, E., Andreasson, U. & Teunissen, C. E., 1 Oct 2019, In : Clinica Chimica Acta. 497, p. 204-211 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use-limiting visual field defects

Walters, D. C., Jansen, E. E. W., Ainslie, G. R., Salomons, G. S., Brown, M. N., Schmidt, M. A., Roullet, J-B. & Gibson, K. M., 1 Feb 2019, In : Pharmacology Research and Perspectives. 7, 1, e00456.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access