Frits Wijburg

PROF.DR.

19982019
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Research Output 1998 2019

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism

Nijmeijer, S. C. M., Conijn, T., Lakeman, P., Henneman, L., Wijburg, F. A. & Haverman, L., 1 Jan 2019, In : Molecular Genetics and Metabolism. 126, 1, p. 14-22 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

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., 2019, In : Journal of Inherited Metabolic Disease. 42, 3, p. 414-423

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency

Bleeker, J. C., Kok, I. L., Ferdinandusse, S., de Vries, M., Derks, T. G. J., Mulder, M. F., Williams, M., Gozalbo, E. R., Bosch, A. M., van den Hurk, D. T., de Sain-van der Velden, M. G. M., Waterham, H. R., Wijburg, F. A. & Visser, G., 2019, In : Journal of Inherited Metabolic Disease. 42, 1, p. 159-168

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)

Additional individual contributors of the E-IMD consortium, 2018, In : Journal of Inherited Metabolic Disease. 41, 4, p. 741-742

Research output: Contribution to journalErratumAcademicpeer-review

Open Access

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types i and III): Potential causes and implications

Kuiper, G. -A., Meijer, O. L. M., Langereis, E. J. & Wijburg, F. A., 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 2.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access