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Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay.
Balfoort BM, Pampalone G, Ruiter JPN, Denis SW, Brands MM; GACR Bird's Eye View Consortium; Timmer C, Wagenmakers MAEM, Wanders RJA, van Karnebeek CD, Cellini B, Houtkooper RH, Ferdinandusse S. Balfoort BM, et al. Among authors: wanders rja. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108542. doi: 10.1016/j.ymgme.2024.108542. Epub 2024 Jul 19. Mol Genet Metab. 2024. PMID: 39053126 Free article.
A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions.
Brands M, Balfoort B, Acharya K, Bergen A, Brunetti-Pierri N, Buijs M, Cellini B, Schultink P, Singh M, Schulze A, Timmer C, Valle D, Wanders R, Wartiovaara K, van Karnebeek C; GACR Bird's Eye View Consortium. Brands M, et al. Mol Genet Metab. 2024 Dec;143(4):108609. doi: 10.1016/j.ymgme.2024.108609. Epub 2024 Nov 7. Mol Genet Metab. 2024. PMID: 39522365 Free article. Review. No abstract available.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: wanders rja. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.
Ciapaite J, van Roermund CWT, Bosma M, Gerrits J, Houten SM, IJlst L, Waterham HR, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Among authors: wanders rja. J Biol Chem. 2023 Sep;299(9):105047. doi: 10.1016/j.jbc.2023.105047. Epub 2023 Jul 13. J Biol Chem. 2023. PMID: 37451483 Free PMC article.
A Dutch translational knowledge agenda for inherited metabolic diseases.
Waterham HR, Wanders RJA, Wevers RA, van Karnebeek CD. Waterham HR, et al. Among authors: wanders rja. J Inherit Metab Dis. 2025 Jan;48(1):e12812. doi: 10.1002/jimd.12812. Epub 2024 Nov 16. J Inherit Metab Dis. 2025. PMID: 39548774 No abstract available.
Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: wanders rja. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
481 results