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About us Practical matters How to find us prof. dr. F.J. (Francjan) van Spronsen
University Medical Center Groningen

prof. dr. F.J. (Francjan) van Spronsen

pediatrician Inherited Metabolic Diseases
Profile picture of prof. dr. F.J. (Francjan) van Spronsen
Telephone:
+31 50 361 1036 (secretary Metabolic Diseases Pediatrics)
+31 50 361 4944 (secretary Patient Care Metabolic Diseases Pedicatrics)
+31 50 361 4944 (Center of Expertise for PKU and Tyrosinemia)
E-mail:
f.j.van.spronsen umcg.nl
Publications Press/media Sustainable Development Goals

Publications

Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study

van Spronsen, F., Peters, H., Margvelashvili, L., Agladze, D., Schwartz, I. V. D., Giżewska, M., Hamazaki, T., Guilder, L., MacDonald, A., Vijay, S., Inwood, A., Minami, M., Fjellbirkeland, O., Lund, A., Lah, M., Thomas, J. A., Longo, N., Kiykim, E., Ishige, M. & Burlina, A., Bélanger-Quintana, A., Rutsch, F., Opladen, T., Mungan, H., Ezgü, F., Bratkovic, D., Chakrapani, A., Ito, T., Guimas, A., Zori, R., Tchan, M., Sacharow, S., Oliveira, A., Janeiro, P., Guerra, I. C., Plana, J. C., Yıldız, Y., Canda, E., Khan, A., Vockley, J., Breilyn, M. S., Manti, F., Larkin, A., Hughes, C., Liu, E., Gao, L., Ingalls, K., Smith, N. & Muntau, A. C., Apr-2026, In: Genetics in Medicine. 28, 4, 14 p., 101683.

Research output: Contribution to journal › Article › Academic › peer-review

Efficacy and safety of sepiapterin versus sapropterin in patients with phenylketonuria: Results from the Phase 3, randomized, crossover, open-label, active-controlled AMPLIPHY trial

Giżewska, M., Inwood, A., Tyčová, R., Vijay, S., Fjellbirkeland, O., van Spronsen, F., Venegas-Moreno, E. M., Guilder, L., Burlina, A., Peters, H., Potter, M., Grošelj, U., Chakrapani, A., Bélanger-Quintana, A., Maillot, F., Rutsch, F., Arnoux, J. B., Tchan, M., Ingalls, K. & Zhao, Z., Hughes, C., Smith, N. & Muntau, A. C., May-2026, In: Metabolism: Clinical and Experimental. 178, 10 p., 156513.

Research output: Contribution to journal › Article › Academic › peer-review

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria

Cannizzo, S., Quoidbach, V., Sheehan-Gilroy, B., Hagedorn, T., Bak, A., Dickson, S. L., Treacy, E. P., Hermida, A., MacDonald, A., Venegas, E., O'Byrne, J., Scarpa, M., Van Spronsen, F., Lange, E., Buckinx, T., Monavari, A., Dahl, S. V., Trieste, L. & Turchetti, G., Apr-2026, In: European Journal of Neurology. 33, 4, 14 p., e70575.

Research output: Contribution to journal › Article › Academic › peer-review

Vitamin B12 Supplementation: Is More Always Better?

Yepes-Calderón, M., Doorenbos, C. S. E., Stegmann, M. E., Touw, D. J., Harmsen, H. J. M., Heiner-Fokkema, M. R., van Spronsen, F. J., Corpeleijn, E. & Bakker, S. J. L., 2-May-2026, In: Nutrients. 18, 10, 18 p., 1597.

Research output: Contribution to journal › Review article › peer-review

Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in theassessment of PKU patients and healthy controls

van Steenis, E. M., Huijbregts, S. C. J., Romani, C., Schoemaker, J. A., van Vliet, N., Kuypers, A. M., Rubio-Gozalbo, M. E., Rennings, A. J. M., de Vries, M., Heiner-Fokkema, M. R. & van Spronsen, F. J., Jun-2025, In: Molecular Genetics and Metabolism. 145, 2, 12 p., 109126.

Research output: Contribution to journal › Article › Academic › peer-review

Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective

Haitjema, S., Lubout, C. M. A., Zijlstra, J. H. M., Verschoof-Puite, R. K. & van Spronsen, F. J., 8-Aug-2025, In: International journal of neonatal screening. 11, 3, 12 p., 62.

Research output: Contribution to journal › Article › Academic › peer-review

Correction to: Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide (International Journal of Neonatal Screening, (2024), 10, 4, (82), 10.3390/ijns10040082)

The ISNS Representatives, Kuypers, A. M., Bouva, M. J., Loeber, J. G., Boelen, A., Dekkers, E., Petritis, K., Pickens, C. A., van Spronsen, F. J. & Heiner-Fokkema, M. R., Sept-2025, In: International journal of neonatal screening. 11, 3, 72.

Research output: Contribution to journal › Erratum

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

European guidelines on diagnosis and treatment of phenylketonuria: First revision

van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Beblo, S., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Coşkun, T., Feillet, F., Giżewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. & van Spronsen, F. J., Jun-2025, In: Molecular Genetics and Metabolism. 145, 2, 41 p., 109125.

Research output: Contribution to journal › Review article › peer-review

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

C5‐OH NBS Working Group, Aukes, R., Albersen, M., Boelen, A., Kluijtmans, L. A. J., Visser, W. F., de Vries, M. C. & Bosch, A. M., Sept-2025, In: Journal of Inherited Metabolic Disease. 48, 5, 17 p., e70088.

Research output: Contribution to journal › Article › Academic › peer-review

Press/media

De hielprik: drie druppels bloed, een wereld van verschil

van Spronsen, F.

25/06/2026

Press/Media: Expert Comment › Popular

Pluvia Biotech Receives European Orphan Drug Designation for Its Lead Compound for PKU

van Spronsen, F.

30/05/2024

Press/Media: Expert Comment › Popular

Campagne vestigt aandacht op ernst en impact van metabole ziekten

van Spronsen, F.

15/08/2022

Press/Media: Expert Comment › Popular

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