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., 2019, In : Human Mutation.

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., 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 1030-1039

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., 23 Jul 2019, In : Clinica Chimica Acta.

Research output: Contribution to journalArticleAcademicpeer-review

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., de Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J. M., Polic, B., Santer, R. & 5 othersWeinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 1 Mar 2018, In : Journal of Inherited Metabolic Disease. 41, 2, p. 169-180 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Cyst fluid from cystic, malignant brain tumors: A reservoir of nutrients, including growth factor-like nutrients, for tumor cells

Dahlberg, D., Struys, E. A., Jansen, E. E., Mørkrid, L., Midttun, Ø. & Hassel, B., 2017, In : Neurosurgery. 80, 6, p. 917-924

Research output: Contribution to journalArticleAcademicpeer-review