Research output per year
Research output per year
Research output
Search results
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2019
Glycogen storage disease type IV: A rare cause for neuromuscular disorders or often missed?
Schene, I. F., Korenke, C. G., Huidekoper, H. H., van der Pol, L., Dooijes, D., Breur, J. M. P. J., Biskup, S., Fuchs, S. A. & Visser, G., 1 Jan 2019, JIMD Reports volume 45. Springer, p. 99-104 6 p. (JIMD Reports; vol. 45).Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review
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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) -
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)