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Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.
Sarret C, Rigal M, Vaurs-Barrière C, Dorboz I, Eymard-Pierre E, Combes P, Giraud G, Wanders RJ, Afenjar A, Francannet C, Boespflug-Tanguy O. Sarret C, et al. Among authors: wanders rj. J Neurol Sci. 2012 Jan 15;312(1-2):123-6. doi: 10.1016/j.jns.2011.08.006. Epub 2011 Aug 26. J Neurol Sci. 2012. PMID: 21872273
[Sjögren-Larsson syndrome: 2 case reports].
Galoin-Bertail C, Ogier de Baulny H, Wanders R, Schiff M, Bellavoine V, Mlika A, Benoist G, Baruteau J. Galoin-Bertail C, et al. Arch Pediatr. 2012 Feb;19(2):135-41. doi: 10.1016/j.arcped.2011.11.004. Epub 2011 Dec 20. Arch Pediatr. 2012. PMID: 22192722 French.
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 27:101324. doi: 10.1016/j.preteyeres.2024.101324. Online ahead of print. Prog Retin Eye Res. 2024. PMID: 39733931 Free article. Review.
Development of the Dutch translational knowledge agenda for inherited metabolic diseases.
Hieltjes IJ, van der Lee JH, Groenendijk MC, van Haaften G, van Hasselt PM, Lunsing RJ, van Prooijen GJJ, de Ruiter EM, van Spronsen FJ, Verhoeven-Duif NM, de Vreugd A, Wagenmakers M, Zweers H, Dekker H, Waterham HR, van Karnebeek CD, Wanders RJA, Wevers RA. Hieltjes IJ, et al. Among authors: wanders rja. JIMD Rep. 2024 Dec 22;66(1):e12455. doi: 10.1002/jmd2.12455. eCollection 2025 Jan. JIMD Rep. 2024. PMID: 39723120 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.
1,027 results