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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

Faculty of Medical Sciences

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

ORCID Research Portal

Publications

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, Malicka, K., Patalan, M., Rocha, J. C., Sivri, S., Rodenburg, I., van Spronsen, F., Strączek, K., Tokatli, A. & MacDonald, A., Jul-2024, In: Nutrients. 16, 13, 25 p., 2064.

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

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Schwahn, B. C., van Spronsen, F., Misko, A., Pavaine, J., Holmes, V., Spiegel, R., Schwarz, G., Wong, F., Horman, A., Pitt, J., Sass, J. O. & Lubout, C., 2024, In: Journal of Inherited Metabolic Disease. 47, 4, p. 598-623 26 p.

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

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries

the KAMPER and PKUDOS investigators, Feillet, F., Ficicioglu, C., Lagler, F. B., Longo, N., Muntau, A. C., Burlina, A., Trefz, F. K., van Spronsen, F. J., Arnoux, J. B., Lindstrom, K., Lilienstein, J., Clague, G. E., Rowell, R. & Burton, B. K., Jul-2024, In: Journal of Inherited Metabolic Disease. 47, 4, p. 636-650 15 p.

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

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Kiewiet, G., Westra, D., de Boer, E. N., van Berkel, E., Hofste, T. G. J., van Zweeden, M., Derks, R. C., Leijsten, N. F. A., Ruiterkamp-Versteeg, M. H. A., Charbon, B., Johansson, L., Bos-Kruizinga, J., Veenstra, I. J., de Sain-van der Velden, M. G. M., Voorhoeve, E., Heiner-Fokkema, M. R., van Spronsen, F., Sikkema-Raddatz, B. & Nelen, M., 7-Mar-2024, In: International journal of neonatal screening. 10, 1

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

High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

Eskandari, S. K., Revenich, E. G. M., Pot, D. J., de Boer, F., Bierings, M., van Spronsen, F. J., van Hasselt, P. M., Lindemans, C. A. & Lubout, C. M. A., 14-Feb-2024, In: New England Journal of Medicine. 390, 7, p. 623-629 7 p.

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

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., 5-Sept-2024, (E-pub ahead of print) In: Journal of Inherited Metabolic Disease. 13 p.

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

Reply to Bouva et al. Comment on “Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66”

Dijkstra, A. M., Evers-van Vliet, K., Heiner-Fokkema, M. R., Bodewes, F. A. J. A., Bos, D. K., Zsiros, J., van Aerde, K. J., Koop, K., van Spronsen, F. J. & Lubout, C. M. A., 24-Sept-2024, In: International journal of neonatal screening. 10, 4, 2 p., 66.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals

Kuypers, A. M., Vliet, K.E.-V., MacDonald, A., Ahring, K., Abeln, D., Ford, S., Hildebrandt-Karlsen, S., van Spronsen, F. J. & Heiner-Fokkema, M. R., May-2024, In: Molecular Genetics and Metabolism. 142, 1, 11 p., 108361.

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

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria

van Wegberg, A. M. J., Engelke, U. F. H., Coene, K. L. M., Jahja, R., Bakker, S. J. L., Huijbregts, S. C. J., Wevers, R. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., Jul-2024, In: Journal of Inherited Metabolic Disease. 47, 4, p. 624-635 12 p.

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

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B. & Visser, G.& 4 others, Wevers, R. A., Wijburg, F. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., 11-Oct-2023, In: International journal of neonatal screening. 9, 4, 20 p., 56.

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

All (256) publications

Press/media

Campagne vestigt aandacht op ernst en impact van metabole ziekten

van Spronsen, F.

15/08/2022

Press/Media: Expert Comment › Popular

All (1) press/media

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