Research output per year
Research output per year
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
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European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance
Munck, A., Berger, D. O., Southern, K. W., Carducci, C., de Winter-de Groot, K. M., Gartner, S., Kashirskaya, N., Linnane, B., Proesmans, M., Sands, D., Sommerburg, O., Castellani, C., Barben, J. & European CF Society Neonatal Screening Working Group (ECFS NSWG), May 2023, In: Journal of Cystic Fibrosis. 22, 3, p. 484-495 12 p.Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus) -
Cystic fibrosis newborn screening (CF-NBS) start-up in Flanders (Belgium): report of first evaluation after 3 years
Proesmans, M., Regal, L., Eyskens, F., Roosens, L., Marcélis, L., Seneca, S., Storm, K., Colaert, K. & De Wachter, E., 2022, In: Journal of Cystic Fibrosis. 21, Supplement 1, p. 65-65 1 p., P001.Research output: Contribution to journal › Meeting abstract (Journal)
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 819-831 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile1 Citation (Scopus)1 Downloads (Pure) -
Defining the phenotypical spectrum associated with variants in TUBB2A
Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J., Mirzaa, G. & 5 others, , 1 Jan 2021, In: Journal of Medical Genetics. 2020, 1, p. 1-8 8 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Citations (Scopus) -
Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback
Lund, A., Guffon, N., Gil-Campos, M., Cattaneo, F., Heron, B., Tylki-Szymanska, A., Borgwardt, L., Regal, L., Cole, D. & Hennermann, J., Feb 2021, In: Molecular Genetics and Metabolism. 132, 2, p. S67-S67Research output: Contribution to journal › Meeting abstract (Journal)
Activities
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Ethical considerations in newborn screening
Luc Regal (Speaker)
16 Mar 2023Activity: Talk or presentation › Talk or presentation at a conference
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51ste Jaarlijks Congres BVK
Luc Regal (Chair)
16 Mar 2023 → 17 Mar 2023Activity: Participating in or organising an event › Participation in conference
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Movement disorders in neurometabolic disorders
Luc Regal (Speaker)
21 Oct 2022Activity: Talk or presentation › Talk or presentation at a conference
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Autumn meeting of theBelgian Society of Pediatric Neurology
Luc Regal (Participant)
21 Oct 2022Activity: Participating in or organising an event › Participation in conference
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Brussels Pediatric Day 2022
Elke De Wachter (Speaker), Luc Regal (Speaker), Ursula Van Den Eede (Speaker), Jean De Schepper (Speaker) & Daniël De Wolf (Speaker)
1 Oct 2022Activity: Talk or presentation › Talk or presentation at a conference