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Research Output 2006 2019

  • 130 Article
  • 4 Chapter
  • 4 Research VU University Amsterdam, graduation VU University Amsterdam
  • 1 Research external, graduation VU University Amsterdam

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

Williams, M., Valayannopoulos, V., Altassan, R., Chung, W. K., Heijboer, A. C., Keng, W. T., Lapatto, R., McClean, P., Mulder, M. F., Tylki-Szymańska, A., Walenkamp, M-J. E., Alfadhel, M., Alakeel, H., Salomons, G. S., Eyaid, W. & Wamelink, M. M. C., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I., Salazar, M. G., Guerrero, K., Thiffault, I., Salomons, G. S., Gauquelin, L., Tran, L. T., Forget, D., Gauthier, M-S., Waisfisz, Q., Smith, D. E. C., Simons, C., van der Knaap, M. S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N. I. & 1 othersBernard, G., 5 Apr 2018, In : American journal of human genetics. 102, 4, p. 676-684

Research output: Contribution to journalArticleAcademicpeer-review

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Kamps, R., Szklarczyk, R., Theunissen, T. E., Hellebrekers, D. M. E. I., Sallevelt, S. C. E. H., Boesten, I. B., de Koning, B., van den Bosch, B. J., Salomons, G. S., Simas-Mendes, M., Verdijk, R., Schoonderwoerd, K., de Coo, I. F. M., Vanoevelen, J. M. & Smeets, H. J. M., 2018, In : European Journal of Human Genetics. 26, 4, p. 537-551

Research output: Contribution to journalArticleAcademicpeer-review