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Research Output 1999 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

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Rumping, L., Tessadori, F., Pouwels, P. J. W., Vringer, E., Wijnen, J. P., Bhogal, A. A., Savelberg, S. M. C., Duran, K. J., Bakkers, M. J. G., Ramos, R. B. J. J., Schellekens, P. A. W., Kroes, H. Y., Klomp, D. W. J., Black, G. C. M., Taylor, R. L., Bakkers, J. P. W., Prinsen, H. C. M. T., van der Knaap, M. S., Dansen, T. B., Rehmann, H. & 6 othersZwartkruis, F. J. T., Houwen, R. H. J., van Haaften, G., Verhoeven-Duif, N. M., Jans, J. J. M. & van Hasselt, P. M., 2019, In : Human Molecular Genetics. 28, 1, p. 96-104

Research output: Contribution to journalArticleAcademicpeer-review

Intrathecal baclofen in metachromatic leukodystrophy

Van Der Veldt, N., Van Rappard, D. F., Van De Pol, L. A., Van Der Knaap, M. S., Van Ouwerkerk, W. J., Becher, J. G., Wolf, N. I. & Buizer, A. I., 1 Feb 2019, In : Developmental Medicine and Child Neurology. 61, 2, p. 232-235 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

Severe leukoencephalopathy with clinical recovery caused by recessive BOLA3 mutations

Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. & Leventer, R. J., 2019, JIMD Reports. Springer, Vol. 43. p. 63-70 (JIMD Reports).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

4H Leukodystrophy: Lessons from 3T Imaging

Cayami, F. K., Bugiani, M., Pouwels, P. J. W., Bernard, G., van der Knaap, M. S. & Wolf, N. I., Apr 2018, In : Neuropediatrics. 49, 2, p. 112-117

Research output: Contribution to journalArticleAcademicpeer-review