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A novel Refsum-like disorder that maps to chromosome 20.
Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. Fiskerstrand T, et al. Among authors: wanders rj. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174
Docosahexaenoic acid prevents peroxisomal and mitochondrial protein loss in a murine hepatic organoid model of severe malnutrition.
Horcas-Nieto JM, Rios-Ocampo WA, Langelaar-Makkinje M, de Boer R, Gerding A, Chornyi S, Martini IA, Wolters JC, Wanders RJA, Waterham HR, Van der Klei IJ, Bandsma RHJ, Jonker JW, Bakker BM. Horcas-Nieto JM, et al. Among authors: wanders rja. Biochim Biophys Acta Mol Basis Dis. 2025 Aug;1871(6):167849. doi: 10.1016/j.bbadis.2025.167849. Epub 2025 Apr 29. Biochim Biophys Acta Mol Basis Dis. 2025. PMID: 40306148
A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism.
Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA. Bender A, et al. Among authors: wanders rj. bioRxiv [Preprint]. 2025 Feb 20:2025.02.19.639093. doi: 10.1101/2025.02.19.639093. bioRxiv. 2025. Update in: J Inherit Metab Dis. 2025 Jul;48(4):e70045. doi: 10.1002/jimd.70045. PMID: 40027804 Free PMC article. Updated. Preprint.
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.
Balfoort BM, Van den Broeck F, Boon CJF, Brouwers MCGJ, Diederen RMH, Dhillon P; GACR “Bird's Eye View” Consortium; van Hasselt PM, Jaeger B, Karuntu JS, Rennings AJM, van Spronsen FJ, Timmer C, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Schulze A, van Karnebeek CD, Brands MM. Balfoort BM, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12842. doi: 10.1002/jimd.12842. J Inherit Metab Dis. 2025. PMID: 39761806 Free PMC article.
Syndromic retinitis pigmentosa.
Karuntu JS, Almushattat H, Nguyen XT, Plomp AS, Wanders RJA, Hoyng CB, van Schooneveld MJ, Schalij-Delfos NE, Brands MM, Leroy BP, van Karnebeek CDM, Bergen AA, van Genderen MM, Boon CJF. Karuntu JS, et al. Among authors: wanders rja. Prog Retin Eye Res. 2024 Dec 27;107:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
1,031 results