20012019

Research output per year

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Research Output

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

De kracht van het begrijpen

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

Research output: Book/ReportInaugural speechPopular

Open Access
File
175 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

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study

van Rijt, W. J., Ferdinandusse, S., Giannopoulos, P., Ruiter, J. P. N., de Boer, L., Bosch, A. M., Huidekoper, H. H., Rubio-Gozalbo, M. E., Visser, G., Williams, M., Wanders, R. J. A. & Derks, T. G. J., Sep 2019, In : Journal of Inherited Metabolic Disease. 42, 5, p. 878-889 12 p.

Research output: Contribution to journalArticleAcademicpeer-review