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Page 1
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S. Albersen M, et al. Among authors: verschoof puite rk. J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26. J Inherit Metab Dis. 2023. PMID: 36256460 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: verschoof puite rk. 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.
Neonatal carnitine concentrations in relation to gestational age and weight.
Crefcoeur LL, de Sain-van der Velden MGM, Ferdinandusse S, Langeveld M, Maase R, Vaz FM, Visser G, Wanders RJA, Wijburg FA, Verschoof-Puite RK, Schielen PCJI. Crefcoeur LL, et al. Among authors: verschoof puite rk. JIMD Rep. 2020 Sep 8;56(1):95-104. doi: 10.1002/jmd2.12162. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204600 Free PMC article.
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: verschoof puite rk. 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.
Global impact of COVID-19 on newborn screening programmes.
Koracin V, Loeber JG, Mlinaric M, Battelino T, Bonham JR, Groselj U; COVID-NBS ISNS global network. Koracin V, et al. BMJ Glob Health. 2022 Mar;7(3):e007780. doi: 10.1136/bmjgh-2021-007780. BMJ Glob Health. 2022. PMID: 35236661 Free PMC article.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
Schwantje M, Fuchs SA, de Boer L, Bosch AM, Cuppen I, Dekkers E, Derks TGJ, Ferdinandusse S, Ijlst L, Houtkooper RH, Maase R, van der Pol WL, de Vries MC, Verschoof-Puite RK, Wanders RJA, Williams M, Wijburg F, Visser G. Schwantje M, et al. Among authors: verschoof puite rk. J Inherit Metab Dis. 2022 Jul;45(4):804-818. doi: 10.1002/jimd.12502. Epub 2022 Apr 19. J Inherit Metab Dis. 2022. PMID: 35383965 Free PMC article.
Parents' views on accepting, declining, and expanding newborn bloodspot screening.
van der Pal SM, Wins S, Klapwijk JE, van Dijk T, Kater-Kuipers A, van der Ploeg CPB, Jans SMPJ, Kemp S, Verschoof-Puite RK, van den Bosch LJM, Henneman L. van der Pal SM, et al. Among authors: verschoof puite rk. PLoS One. 2022 Aug 18;17(8):e0272585. doi: 10.1371/journal.pone.0272585. eCollection 2022. PLoS One. 2022. PMID: 35980961 Free PMC article.
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. Among authors: verschoof puite rk. 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
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
Dankert-Roelse JE, Bouva MJ, Jakobs BS, Janssens HM, de Winter-de Groot KM, Schönbeck Y, Gille JJP, Gulmans VAM, Verschoof-Puite RK, Schielen PCJI, Verkerk PH. Dankert-Roelse JE, et al. Among authors: verschoof puite rk. J Cyst Fibros. 2019 Jan;18(1):54-63. doi: 10.1016/j.jcf.2018.07.008. Epub 2018 Aug 23. J Cyst Fibros. 2019. PMID: 30146269 Free article.
Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents.
van den Heuvel LM, van der Pal SM, Verschoof-Puite RK, Klapwijk JE, Elsinghorst E, Dekkers E, van der Ploeg CPB, Henneman L. van den Heuvel LM, et al. Among authors: verschoof puite rk. Int J Neonatal Screen. 2024 Mar 5;10(1):18. doi: 10.3390/ijns10010018. Int J Neonatal Screen. 2024. PMID: 38535122 Free PMC article.