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Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model.
Jansen HI, van Haeringen M, Bouva MJ, den Elzen WPJ, Bruinstroop E, van der Ploeg CPB, van Trotsenburg ASP, Zwaveling-Soonawala N, Heijboer AC, Bosch AM, de Jonge R, Hoogendoorn M, Boelen A. Jansen HI, et al. Among authors: boelen a. Eur Thyroid J. 2023 Nov 3;12(6):e230141. doi: 10.1530/ETJ-23-0141. Print 2023 Dec 1. Eur Thyroid J. 2023. PMID: 37855424 Free PMC article.
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet K, Dijkstra AM, Bouva MJ, van der Krogt J, Bijsterveld K, van der Sluijs F, de Sain-van der Velden MG, Koop K, Rossi A, Thomas JA, Patera CA, Kiewiet MBG, Waters PJ, Cyr D; Québec NTBC Study Group; Boelen A, van Spronsen FJ, Heiner-Fokkema MR. van Vliet K, et al. Among authors: boelen a. J Inherit Metab Dis. 2023 Nov;46(6):1104-1113. doi: 10.1002/jimd.12669. Epub 2023 Aug 10. J Inherit Metab Dis. 2023. PMID: 37545091
Should we depend on reference intervals from manufacturer package inserts? Comparing TSH and FT4 reference intervals from four manufacturers with results from modern indirect methods and the direct method.
Dirks NF, den Elzen WPJ, Hillebrand JJ, Jansen HI, Boekel ET, Brinkman J, Buijs MM, Demir AY, Dijkstra IM, Endenburg SC, Engbers P, Gootjes J, Janssen MJW, Kniest-de Jong WHA, Kok MB, Kamphuis S, Kruit A, Michielsen E, Wolthuis A, Boelen A, Heijboer AC. Dirks NF, et al. Among authors: boelen a. Clin Chem Lab Med. 2024 Jan 12. doi: 10.1515/cclm-2023-1237. Online ahead of print. Clin Chem Lab Med. 2024. PMID: 38205847 Free article.
173 results