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Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
van Kuilenburg AB, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RL, Dezentjé V, van Huis-Tanja LH, van Kampen RJ, Hertz JM, Hennekam RC. van Kuilenburg AB, et al. Among authors: maurer d. Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):721-730. doi: 10.1016/j.bbadis.2016.12.010. Epub 2016 Dec 24. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28024938 Free article.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. van Kuilenburg ABP, et al. Among authors: maurer d. Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10. Hum Mutat. 2018. PMID: 29691939
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Dobritzsch D, Meijer J, Meinsma R, Maurer D, Monavari AA, Gummesson A, Reims A, Cayuela JA, Kuklina N, Benoist JF, Perrin L, Assmann B, Hoffmann GF, Bierau J, Kaindl AM, van Kuilenburg ABP. Dobritzsch D, et al. Among authors: maurer d. Mol Genet Metab. 2022 Jul;136(3):177-185. doi: 10.1016/j.ymgme.2022.01.102. Epub 2022 Feb 1. Mol Genet Metab. 2022. PMID: 35151535 Free article.
VascuFit: Aerobic exercise improves endothelial function independent of cardiovascular risk: A randomized-controlled trial.
Goeder D, Kröpfl JM, Angst T, Hanssen H, Hauser C, Infanger D, Maurer D, Oberhoffer-Fritz R, Schmidt-Trucksäss A, Königstein K. Goeder D, et al. Among authors: maurer d. Atherosclerosis. 2024 Dec;399:118631. doi: 10.1016/j.atherosclerosis.2024.118631. Epub 2024 Oct 16. Atherosclerosis. 2024. PMID: 39536471 Free article. Clinical Trial.
Global Scope of Practice of an APN Anesthesia: A Scoping Review.
Vetter L, Maurer D, Zumstein-Shaha M, Hug BL. Vetter L, et al. Among authors: maurer d. J Perianesth Nurs. 2024 Oct 24:S1089-9472(24)00383-6. doi: 10.1016/j.jopan.2024.07.016. Online ahead of print. J Perianesth Nurs. 2024. PMID: 39453349 Free article. Review.
484 results