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
- 21 Article
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Biallelic Variant in <i>LYSET</i> Associated With Mucolipidosis II-Like Phenotype
Kariminejad, A., Pouya, F., Ahangari, F., Talebi, S., Afroozan, F., Verheijen, F. W., Najmabadi, H. & Jacobs, E. H., 2 Apr 2025, (E-pub ahead of print) In: American Journal of Medical Genetics Part A. 5 p.Research output: Contribution to journal › Article › Academic › peer-review
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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
Malekkou, A., Theodosiou, A., Alexandrou, A., Papaevripidou, I., Sismani, C., Jacobs, E. H., Ruijter, G. J. G., Anastasiadou, V., Ourani, S., Athanasiou, E., Drousiotou, A., Grafakou, O. & Petrou, P. P., Sept 2023, In: Molecular Genetics and Metabolism Reports. 36, 100997.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)52 Downloads (Pure) -
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, , Aug 2023, In: Acta Neuropathologica. 146, 2, p. 353-368 16 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Citations (Scopus)41 Downloads (Pure) -
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 AccessFile8 Citations (Scopus)110 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
5 Citations (Scopus)