S.J.M. van Dooren

20102019
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Research Output 2010 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

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

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, C. R., Swanson, M. A., Spector, E., Meeks, N. J. L., Kronquist, K. E., Aslamy, M., Wempe, M. F., van Karnebeek, C. D. M., Gospe, S. M., Aziz, V. G., Tsai, B. P., Gao, H., Nagy, P. L., Hyland, K., van Dooren, S. J. M., Salomons, G. S. & van Hove, J. L. K., 2018, In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticleAcademicpeer-review

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Mendes, M. I., Smith, D. E. C., Pop, A., Lennertz, P., Fernandez Ojeda, M. R., Kanhai, W. A., van Dooren, S. J. M., Anikster, Y., Barić, I., Boelen, C., Campistol, J., de Boer, L., Kariminejad, A., Kayserili, H., Roubertie, A., Verbruggen, K. T., Vianey-Saban, C., Williams, M. & Salomons, G. S., 1 May 2017, In : Human Mutation. 38, 5, p. 524-531 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

van de Kamp, J. M., Errami, A., Howidi, M., Anselm, I., Winter, S., Phalin-Roque, J., Osaka, H., van Dooren, S. J. M., Mancini, G. M., Steinberg, S. J. & Salomons, G., 2015, In : Clinical Genetics. 87, 2, p. 141-147

Research output: Contribution to journalArticleAcademicpeer-review