Research output per year
Research output per year
Research output
Search results
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2018
Beneficial Effect of BHTreatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
de Sain-van der Velden, M. G. M., Kuper, W. F. E., Kuijper, M.-A., van Kats, L. A. T., Prinsen, H. C. M. T., Balemans, A. C. J., Visser, G., van Gassen, K. L. I. & van Hasselt, P. M., 30 Jan 2018, JIMD Reports: Volume 42. Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J. & Peters, V. (eds.). Springer, Vol. 42. p. 99-103 5 p. (JIMD Reports; vol. 42).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
2 Citations (Scopus) -
2016
A new approach for fast metabolic diagnostics in CMAMMA
de Sain-van der Velden, M. G. M., van der Ham, M., Jans, J. J., Visser, G., Prinsen, H. C. M. T., Verhoeven-Duif, N. M., van Gassen, K. L. I. & van Hasselt, P. M., 1 Jan 2016, JIMD Reports. Springer, Vol. 30. p. 15-22 8 p. (JIMD Reports; vol. 30).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
1 Citation (Scopus) -
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency
Diekman, E., de Sain-van der Velden, M., Waterham, H., Kluijtmans, L., Schielen, P., van Veen, E. B., Ferdinandusse, S., Wijburg, F. & Visser, G., 2016, JIMD Reports. Springer, Vol. 27. p. 101-106 6 p. (JIMD Reports; vol. 27).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
3 Citations (Scopus) -
2015
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion
Schene, I. F., Kalinina Ayuso, V., de Sain-van der Velden, M., van Gassen, K. L. I., Cuppen, I., van Hasselt, P. M. & Visser, G., 5 Jul 2015, JIMD Reports. Springer, p. 9-13 5 p. (JIMD Reports; vol. 25).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
3 Citations (Scopus) -
2013
Aminozuur gerelateerde aminoacidopathieën
Prinsen, H., 2013, syllabus erfelijke metabole ziekten voor Klinisch chemici in opleiding..Research output: Chapter in Book/Report/Conference proceeding › Chapter › Professional
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High incidence of symptomatic hyperammonemia in children with acute lymphoblastic leukemia receiving pegylated asparaginase
Heitink-Pollé, K. M. J., Prinsen, B. H. C. M. T., de Koning, T. J., van Hasselt, P. M. & Bierings, M. B., 1 Jan 2013, JIMD Reports. Springer, Vol. 7. p. 103-108 6 p. (JIMD Reports; vol. 7).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
25 Citations (Scopus) -
2008
Creatine and its metabolites
Struys, E. A., Verhoeven-Duif, N. & Jakobs, C., 1 Dec 2008, Laboratory Guide to the Methods in Biochemical Genetics. Springer Berlin Heidelberg, p. 739-749 11 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review