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Page 1
Did you mean bova m (115 results)?
Newborn Screening for Sickle Cell Disease in Europe.
Daniel Y, Elion J, Allaf B, Badens C, Bouva MJ, Brincat I, Cela E, Coppinger C, de Montalembert M, Gulbis B, Henthorn J, Ketelslegers O, McMahon C, Streetly A, Colombatti R, Lobitz S. Daniel Y, et al. Among authors: bouva mj. Int J Neonatal Screen. 2019 Feb 12;5(1):15. doi: 10.3390/ijns5010015. eCollection 2019 Mar. Int J Neonatal Screen. 2019. PMID: 33072975 Free PMC article. Review.
European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.
Munck A, Berger DO, Southern KW, Carducci C, de Winter-de Groot KM, Gartner S, Kashirskaya N, Linnane B, Proesmans M, Sands D, Sommerburg O, Castellani C, Barben J; European CF Society Neonatal Screening Working Group (ECFS NSWG). Munck A, et al. J Cyst Fibros. 2023 May;22(3):484-495. doi: 10.1016/j.jcf.2022.09.012. Epub 2022 Nov 10. J Cyst Fibros. 2023. PMID: 36372700
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.
Vaz FM, Jamal Y, Barto R, Gelb MH, DeBarber AE, Wevers RA, Nelen MR, Verrips A, Bootsma AH, Bouva MJ, Kleise N, van der Zee W, He T, Salomons GS, Huidekoper HH. Vaz FM, et al. Among authors: bouva mj. Clin Chim Acta. 2023 Jan 15;539:170-174. doi: 10.1016/j.cca.2022.12.011. Epub 2022 Dec 16. Clin Chim Acta. 2023. PMID: 36529270 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.
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
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
Optimization of performance of Dutch newborn screening for cystic fibrosis.
Bouva MJ, Dankert-Roelse JE, van der Ploeg C, Verschoof-Puite RK, Zomer-van Ommen DD, Gille J, Jakobs BS, Heijnen M, de Winter-de Groot KM. Bouva MJ, et al. J Cyst Fibros. 2024 Jan;23(1):120-125. doi: 10.1016/j.jcf.2023.09.001. Epub 2023 Sep 15. J Cyst Fibros. 2024. PMID: 37716879
Corrigendum: 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. 2021 Jan 28;9:631655. doi: 10.3389/fcell.2021.631655. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33585488 Free PMC article.
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference.
Lobitz S, Telfer P, Cela E, Allaf B, Angastiniotis M, Backman Johansson C, Badens C, Bento C, Bouva MJ, Canatan D, Charlton M, Coppinger C, Daniel Y, de Montalembert M, Ducoroy P, Dulin E, Fingerhut R, Frömmel C, García-Morin M, Gulbis B, Holtkamp U, Inusa B, James J, Kleanthous M, Klein J, Kunz JB, Langabeer L, Lapouméroulie C, Marcao A, Marín Soria JL, McMahon C, Ohene-Frempong K, Périni JM, Piel FB, Russo G, Sainati L, Schmugge M, Streetly A, Tshilolo L, Turner C, Venturelli D, Vilarinho L, Yahyaoui R, Elion J, Colombatti R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. Lobitz S, et al. Among authors: bouva mj. Br J Haematol. 2018 Nov;183(4):648-660. doi: 10.1111/bjh.15600. Epub 2018 Oct 18. Br J Haematol. 2018. PMID: 30334577 Free article.
24 results