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106 results

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Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA. Huigen MC, et al. Among authors: van der graaf m, van steensel ma. Mol Genet Metab. 2015 Jan;114(1):51-4. doi: 10.1016/j.ymgme.2014.10.016. Epub 2014 Nov 4. Mol Genet Metab. 2015. PMID: 25468645
Symptomatic lipid storage in carriers for the PNPLA2 gene.
Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Janssen MC, et al. Among authors: van engelen b, van der graaf m, van dijk m. Eur J Hum Genet. 2013 Aug;21(8):807-15. doi: 10.1038/ejhg.2012.256. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232698 Free PMC article.
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horská A, Engelke U, Wevers RA, Maegawa GH. Zulfiqar M, et al. Among authors: van der graaf m. J Magn Reson Imaging. 2013 Apr;37(4):974-80. doi: 10.1002/jmri.23852. Epub 2012 Oct 10. J Magn Reson Imaging. 2013. PMID: 23055421 Free PMC article.
Sjögren-Larsson syndrome in clinical practice.
Fuijkschot J, Theelen T, Seyger MM, van der Graaf M, de Groot IJ, Wevers RA, Wanders RJ, Waterham HR, Willemsen MA. Fuijkschot J, et al. Among authors: van der graaf m. J Inherit Metab Dis. 2012 Nov;35(6):955-62. doi: 10.1007/s10545-012-9518-6. Epub 2012 Jul 26. J Inherit Metab Dis. 2012. PMID: 22833178 Review.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP. Staps P, et al. Among authors: van goethem g, van kampen ahc, van der graaf m. J Inherit Metab Dis. 2020 Nov;43(6):1265-1278. doi: 10.1002/jimd.12275. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557630 Free PMC article.
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. Among authors: van der graaf m. J Intern Med. 2021 Nov;290(5):1039-1047. doi: 10.1111/joim.13277. Epub 2021 Apr 8. J Intern Med. 2021. PMID: 33830582 Free article.
106 results