Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

234 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. Among authors: van spronsen fj. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR. Kuypers AM, et al. Among authors: van spronsen fj. Int J Neonatal Screen. 2024 Dec 16;10(4):82. doi: 10.3390/ijns10040082. Int J Neonatal Screen. 2024. PMID: 39728402 Free PMC article.
Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Hieltjes IJ, van der Lee JH, Groenendijk MC, van Haaften G, van Hasselt PM, Lunsing RJ, van Prooijen GJJ, de Ruiter EM, van Spronsen FJ, Verhoeven-Duif NM, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham HR, van Karnebeek CD, Wanders RJA, Wevers RA. Hieltjes IJ, et al. Among authors: van spronsen fj. JIMD Rep. 2024 Dec 22;66(1):e12455. doi: 10.1002/jmd2.12455. eCollection 2025 Jan. JIMD Rep. 2024. PMID: 39723120 Free PMC article.
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 AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA. Dijkstra AM, et al. Among authors: van spronsen fj. Int J Neonatal Screen. 2024 Sep 24;10(4):66. doi: 10.3390/ijns10040066. Int J Neonatal Screen. 2024. PMID: 39449354 Free PMC article.
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.
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ; KAMPER investigators. Feillet F, et al. Among authors: van spronsen fj. J Inherit Metab Dis. 2025 Jan;48(1):e12796. doi: 10.1002/jimd.12796. Epub 2024 Sep 5. J Inherit Metab Dis. 2025. PMID: 39237321 Free PMC article.
Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals.
Kuypers AM, Vliet KE, MacDonald A, Ahring K, Abeln D, Ford S, Hildebrandt-Karlsen S, van Spronsen FJ, Heiner-Fokkema MR. Kuypers AM, et al. Among authors: van spronsen fj. Mol Genet Metab. 2024 May;142(1):108361. doi: 10.1016/j.ymgme.2024.108361. Epub 2024 Feb 29. Mol Genet Metab. 2024. PMID: 38442492 Free article.
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.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. Among authors: van spronsen fj. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
Eskandari SK, Revenich EGM, Pot DJ, de Boer F, Bierings M, van Spronsen FJ, van Hasselt PM, Lindemans CA, Lubout CMA. Eskandari SK, et al. Among authors: van spronsen fj. N Engl J Med. 2024 Feb 15;390(7):623-629. doi: 10.1056/NEJMoa2313398. N Engl J Med. 2024. PMID: 38354141
234 results