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

88 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: heiner fokkema mr. Int J Neonatal Screen. 2024 Dec 16;10(4):82. doi: 10.3390/ijns10040082. Int J Neonatal Screen. 2024. PMID: 39728402 Free PMC article.
The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside.
Gross-Valle C, Jacobs TC, Dijck-Brouwer JDA, Lubberts J, Bakker BM, Bakker SJL, van der Veen Y, Schreuder AB, Derks TGJ, van der Krogt J, Groen J, Heiner-Fokkema MR. Gross-Valle C, et al. Among authors: heiner fokkema mr. J Inherit Metab Dis. 2025 Jan;48(1):e12801. doi: 10.1002/jimd.12801. Epub 2024 Oct 26. J Inherit Metab Dis. 2025. PMID: 39460557 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: heiner fokkema mr. Int J Neonatal Screen. 2024 Sep 24;10(4):66. doi: 10.3390/ijns10040066. Int J Neonatal Screen. 2024. PMID: 39449354 Free PMC article.
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: heiner fokkema mr. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 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: heiner fokkema mr. 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.
88 results