Research output per year
Research output per year
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Dive into the research topics where Ed Jacobs is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 19 Article
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Deng, R., Medico-Salsench, E., Nikoncuk, A., Ramakrishnan, R., Lanko, K., Kühn, N. A., van der Linde, H. C., Lor-Zade, S., Albuainain, F., Shi, Y., Yousefi, S., Capo, I., van den Herik, E. M., van Slegtenhorst, M., van Minkelen, R., Geeven, G., Mulder, M. T., Ruijter, G. J. G., Lütjohann, D., Jacobs, E. H., & 32 others, 29 Apr 2023, (E-pub ahead of print) In: Acta Neuropathologica.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
Hagemeijer, M. C., van den Bosch, J. C., Bongaerts, M., Jacobs, E. H., van den Hout, J. M. P., Oussoren, E. & Ruijter, G. J. G., Mar 2023, In: Journal of Inherited Metabolic Disease. 46, 2, p. 206-219 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)3 Downloads (Pure) -
Distinct features in adult polyglucosan body disease: a case series
De Winter, J., Cypers, G., Jacobs, E., Bossche, S. V., Deconinck, T., De Ridder, W., Dekeyzer, S. & Baets, J., Feb 2023, In: Neuromuscular Disorders. 33, 2, p. 148-152 5 p.Research output: Contribution to journal › Article › Academic › peer-review
1 Citation (Scopus) -
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease
van Kooten, H. A., Ditters, I. A. M., Hoogeveen-Westerveld, M., Jacobs, E. H., van den Hout, J. M. P., van Doorn, P. A., Pijnappel, W. W. M. P., van der Ploeg, A. T. & van der Beek, N. A. M. E., 2 Feb 2022, In: Orphanet Journal of Rare Diseases. 17, 1, 31.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)9 Downloads (Pure) -
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Beerepoot, S., Heijst, H., Roos, B., Wamelink, M. M. C., Boelens, J. J., Lindemans, C. A., Van Hasselt, P. M., Jacobs, E. H., Van Der Knaap, M. S., Teunissen, C. E. & Wolf, N. I., 1 Jan 2022, In: Brain. 145, 1, p. 105-118 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Citations (Scopus)71 Downloads (Pure)