20012020

Research output per year

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Research Output

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Haskovic, M., Coelho, A. I., Bierau, J., Vanoevelen, J. M., Steinbusch, L. K. M., Zimmermann, L. J. I., Villamor-Martinez, E., Berry, G. T. & Rubio-Gozalbo, M. E., May 2020, In : Journal of Inherited Metabolic Disease. 43, 3, p. 392-408 17 p.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

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., Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 890-897 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

De kracht van het begrijpen

Rubio Gozalbo, E., 2019, Maastricht: Maastricht University. 13 p.

Research output: Book/ReportInaugural speechPopular

Open Access
File
280 Downloads (Pure)

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 others, van Hasselt, P. M., Schoenmakers, M., Wijburg, F. A. & Visser, G., May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Kuiper, A., Grunewald, S., Murphy, E., Coenen, M. A., Eggink, H., Zutt, R., Rubio-Gozalbo, M. E., Bosch, A. M., Williams, M., Derks, T. G. J., Lachmann, R. H. L., Brouwers, M. C. G. J., Janssen, M. C. H., Tijssen, M. A. & de Koning, T. J., May 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 451-458 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access