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Page 1
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: bouva mj. 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
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization.
Stroek K, Boelen A, Bouva MJ, De Sain-van der Velden M, Schielen PCJI, Maase R, Engel H, Jakobs B, Kluijtmans LAJ, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, Visser G, de Vries MC, Williams M, Heijboer AC, Kemper EA, Bosch AM. Stroek K, et al. Among authors: bouva mj. JIMD Rep. 2020 May 13;54(1):68-78. doi: 10.1002/jmd2.12124. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685353 Free PMC article.
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot Study.
Stroek K, Ruiter A, van der Linde A, Ackermans M, Bouva MJ, Engel H, Jakobs B, Kemper EA, van den Akker ELT, van Albada ME, Bocca G, Finken MJJ, Hannema SE, Mieke Houdijk ECA, van der Kamp HJ, van Tellingen V, Paul van Trotsenburg AS, Zwaveling-Soonawala N, Bosch AM, de Jonge R, Heijboer AC, Claahsen-van der Grinten HL, Boelen A. Stroek K, et al. Among authors: bouva mj. J Clin Endocrinol Metab. 2021 Oct 21;106(11):e4487-e4496. doi: 10.1210/clinem/dgab464. J Clin Endocrinol Metab. 2021. PMID: 34171085
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: bouva mj. 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.
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: bouva mj. Int J Neonatal Screen. 2024 Dec 16;10(4):82. doi: 10.3390/ijns10040082. Int J Neonatal Screen. 2024. PMID: 39728402 Free PMC article.
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: bouva mj. Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32626714 Free PMC article.
25 results