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Research Output 2017 2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands

Jager, E. A., Kuijpers, M. M., Bosch, A. M., Mulder, M. F., Gozalbo, E. R., Visser, G., de Vries, M., Williams, M., Waterham, H. R., van Spronsen, F. J., Schielen, P. C. J. I. & Derks, T. G. J., 1 Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

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., 1 Jan 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 147-158 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Lund, A. M., Rizopoulos, D., Kölker, S., Williams, M., Hörster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C. & 49 othersBaumgartner, M. R., Häberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Cazorla, A. G., Saladelafont, E. C. I., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grünewald, S., Chakrapani, A., Hwu, W-L., Chien, Y-H., Lee, N-C., Karall, D., Scholl-Bürgi, S., de Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Peña-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Additional individual contributors from E-IMD, Wijburg, F. A., Vara, R., Vives Piñera, I., Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lüsebrink, N., Jalan, A., Sokal, E., Legros, V., Nassogne, M-C. & Barić, I., 1 Apr 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 397-405 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

Molema, F., Gleich, F., Burgard, P., van der Ploeg, A. T., Summar, M. L., Chapman, K. A., Barić, I., Lund, A. M., Kölker, S., Williams, M. & Additional individual contributors from E-IMD, 1 Nov 2019, In : Journal of Inherited Metabolic Disease. 42, 6, p. 1162-1175 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., van der Pol, W. L., Cuppen, I., Bosch, A. M., Langeveld, M., Derks, T. G. J., Williams, M., de Vries, M., Mulder, M. F., Gozalbo, E. R., de Sain-van der Velden, M. G. M., Rennings, A. J., Schielen, P. J. C. I., Dekkers, E., Houtkooper, R. H., Waterham, H. R., Pras-Raves, M. L., Wanders, R. J. A. & 4 othersvan Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., 1 May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access