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Platelet abnormalities in nephrotic syndrome.
Eneman B, Levtchenko E, van den Heuvel B, Van Geet C, Freson K. Eneman B, et al. Among authors: van den heuvel b, van geet c. Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13. Pediatr Nephrol. 2016. PMID: 26267676 Review.
Enhanced Intrinsic Skin Aging in Nephropathic Cystinosis Assessed by High-Definition Optical Coherence Tomography.
Veys KRP, Elmonem MA, Dhaenens F, Van Dyck M, Janssen MMCH, Cornelissen EAM, Hohenfellner K, Reda A, Quatresooz P, van den Heuvel B, Boone MALM, Levtchenko E. Veys KRP, et al. Among authors: van dyck m, van den heuvel b. J Invest Dermatol. 2019 Oct;139(10):2242-2245.e5. doi: 10.1016/j.jid.2019.03.1153. Epub 2019 Apr 22. J Invest Dermatol. 2019. PMID: 31022388 Free article. No abstract available.
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Veys K, Zadora W, Hohenfellner K, Bockenhauer D, Janssen MCH, Niaudet P, Servais A, Topaloglu R, Besouw M, Novo R, Haffner D, Kanzelmeyer N, Pape L, Wühl E, Harms E, Awan A, Sikora P, Ariceta G, van den Heuvel B, Levtchenko E. Veys K, et al. Among authors: van den heuvel b. J Inherit Metab Dis. 2023 Jan;46(1):43-54. doi: 10.1002/jimd.12562. Epub 2022 Oct 6. J Inherit Metab Dis. 2023. PMID: 36117148
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.
Donker AE, Schaap CC, Novotny VM, Smeets R, Peters TM, van den Heuvel BL, Raphael MF, Rijneveld AW, Appel IM, Vlot AJ, Versluijs AB, van Gelder M, Granzen B, Janssen MC, Rennings AJ, van de Veerdonk FL, Brons PP, Bakkeren DL, Nijziel MR, Vlasveld LT, Swinkels DW. Donker AE, et al. Among authors: van de veerdonk fl, van den heuvel bl, van gelder m. Am J Hematol. 2016 Dec;91(12):E482-E490. doi: 10.1002/ajh.24561. Am J Hematol. 2016. PMID: 27643674 Free PMC article.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: van den heuvel b, van de warrenburg bp, van gassen kl, van zelst stams wa. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Gardeitchik T, et al. Among authors: van den heuvel b. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
57 results