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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: bosch am. 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.
Mitochondrial complex I activity in microglia sustains neuroinflammation.
Peruzzotti-Jametti L, Willis CM, Krzak G, Hamel R, Pirvan L, Ionescu RB, Reisz JA, Prag HA, Garcia-Segura ME, Wu V, Xiang Y, Barlas B, Casey AM, van den Bosch AMR, Nicaise AM, Roth L, Bates GR, Huang H, Prasad P, Vincent AE, Frezza C, Viscomi C, Balmus G, Takats Z, Marioni JC, D'Alessandro A, Murphy MP, Mohorianu I, Pluchino S. Peruzzotti-Jametti L, et al. Among authors: van den bosch amr. Nature. 2024 Apr;628(8006):195-203. doi: 10.1038/s41586-024-07167-9. Epub 2024 Mar 13. Nature. 2024. PMID: 38480879 Free PMC article.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: bosch am. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
Mitochondrial reverse electron transport in myeloid cells perpetuates neuroinflammation.
Peruzzotti-Jametti L, Willis CM, Hamel R, Krzak G, Reisz JA, Prag HA, Wu V, Xiang Y, van den Bosch AMR, Nicaise AM, Roth L, Bates GR, Huang H, Vincent AE, Frezza C, Viscomi C, Marioni JC, D'Alessandro A, Takats Z, Murphy MP, Pluchino S. Peruzzotti-Jametti L, et al. Among authors: van den bosch amr. bioRxiv [Preprint]. 2024 Jan 4:2024.01.03.574059. doi: 10.1101/2024.01.03.574059. bioRxiv. 2024. PMID: 38260262 Free PMC article. Preprint.
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.
Veldman A, Kiewiet MBG, Westra D, Bosch AM, Brands MMG, de Coo RIFM, Derks TGJ, Fuchs SA, van den Hout JMP, Huidekoper HH, Kluijtmans LAJ, Koop K, Lubout CMA, Mulder MF, Panis B, Rubio-Gozalbo ME, de Sain-van der Velden MG, Schaefers J, Schreuder AB, Visser G, Wevers RA, Wijburg FA, Heiner-Fokkema MR, van Spronsen FJ. Veldman A, et al. Among authors: bosch am. Int J Neonatal Screen. 2023 Oct 11;9(4):56. doi: 10.3390/ijns9040056. Int J Neonatal Screen. 2023. PMID: 37873847 Free PMC article.
167 results