Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Francjan van Spronsen is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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
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Development of the Dutch translational knowledge agenda for inherited metabolic diseases
Hieltjes, I. J., van der Lee, J. H., Groenendijk, M. C., van Haaften, G., van Hasselt, P. M., Lunsing, R. J., van Prooijen, G. J. J., de Ruiter, E. M., van Spronsen, F. J., Verhoeven-Duif, N. M., de Vreugd, A., Wagenmakers, M., Zweers, H., Dekker, H., Waterham, H. R., van Karnebeek, C. D., Wanders, R. J. A. & Wevers, R. A., Jan-2025, In: JIMD Reports. 66, 1, e12455.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile9 Downloads (Pure) -
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study
the KAMPER investigators, Feillet, F., Arnoux, J. B., Delgado, M. B., Burlina, A., Chabrol, B., Kucuksayrac, E., Lagler, F. B., Muntau, A. C., Olsson, D., Paci, S., Rutsch, F. & van Spronsen, F. J., Jan-2025, In: Journal of Inherited Metabolic Disease. 48, 1, 13 p., e12796.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile51 Downloads (Pure) -
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
Veldman, A., Sikkema-Raddatz, B., Derks, T. G. J., van Karnebeek, C. D. M., Kiewiet, M. B. G., Mulder, M. F., Nelen, M. R., Rubio-Gozalbo, M. E., Sinke, R. J., de Sain-van der Velden, M. G., Visser, G., de Vries, M. C., Westra, D., Williams, M., Wevers, R. A., Heiner Fokkema, M. R. & van Spronsen, F. J., Mar-2025, In: International journal of neonatal screening. 11, 1, 26 p., 1.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile42 Downloads (Pure) -
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study
GACR “Bird's Eye View” Consortium, Balfoort, B. M., Van den Broeck, F., Boon, C. J. F., Brouwers, M. C. G. J., Diederen, R. M. H., Dhillon, P., van Hasselt, P. M., Jaeger, B., Karuntu, J. S., Rennings, A. J. M., van Spronsen, F. J., Timmer, C., Wagenmakers, M. A. E. M., De Zaeytijd, J., Leroy, B. P., Schulze, A., van Karnebeek, C. D. & Brands, M. M., 6-Jan-2025, In: Journal of Inherited Metabolic Disease. 48, 1, 16 p., e12842.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)10 Downloads (Pure) -
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Pinto, A., Ahring, K., Almeida, M. F., Ashmore, C., Bélanger-Quintana, A., Burlina, A., Coşkun, T., Daly, A., van Dam, E., Dursun, A., Evans, S., Feillet, F., Giżewska, M., Gökmen-Özel, H., Hickson, M., Hoekstra, Y., Ilgaz, F., Jackson, R., Leśniak, A. & Loro, C. & 9 others, , Jul-2024, In: Nutrients. 16, 13, 25 p., 2064.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)52 Downloads (Pure)
Projects
- 1 Finished
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AL-II: The role of the microbiome in disease–associated mental and behavioral problems: The case of phenylketonuria (PKU)
van der Zee, E. (PI), Falcao Salles, J. (PI), van Spronsen, F. (PI) & van der Goot, E. (PhD student)
01/07/2017 → 01/08/2023
Project: Research
Activities
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The Journal of Nutrition (Journal)
van Spronsen, F. J. (Editorial board member)
2018Activity: Peer-review and editorial work › Editorial work › Academic
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European Refence Network for Hereditary Metabolic Disorders (MetabERN) (External organisation)
van Spronsen, F. J. (Member)
2018Activity: Membership › Professional
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Phenylketonuria and its treatment. Masterclass on PKU in China.
van Spronsen, F. J. (Speaker)
27-Oct-2018Activity: Talk and presentation › Professional or public presentation › Professional
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Presentations on pathogenesis, variation of blood phenylalanine concentrations and guidelines PKU
van Spronsen, F. J. (Speaker)
2-Nov-2018 → 3-Nov-2018Activity: Talk and presentation › Academic presentation › Academic
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Working group for Research on Neonatal Screening (External organisation)
van Spronsen, F. J. (Member)
2018Activity: Membership › Professional
Datasets
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Supplementary data for: Phenylketonuria in a microbial world, chapter 7
van der Goot, E. (Creator) & Van Spronsen, F. J. (Contributor), DataverseNL, 11-May-2023
DOI: 10.34894/pvjn4j
Dataset
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Replication Data for: Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in Phenylketonuria (PKU)
Bruinenberg, V. (Contributor), Vliet ,van, D. (Contributor), van der Goot, E. (Contributor), Vries, de, M. (Contributor), Counotte, D. S. (Contributor), Kuhn, M. (Contributor), van Spronsen, F. (Contributor) & van der Zee, E. (Contributor), University of Groningen, 5-Mar-2019
DOI: 10.34894/kn3ezu
Dataset
Press/Media
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Pluvia Biotech Receives European Orphan Drug Designation for Its Lead Compound for PKU
30/05/2024
1 Media contribution
Press/Media: Expert Comment › Popular
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Campagne vestigt aandacht op ernst en impact van metabole ziekten
15/08/2022
1 Media contribution
Press/Media: Expert Comment › Popular