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Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
J Inherit Metab Dis. 2012 Nov;35(6):1137-45. doi: 10.1007/s10545-012-9471-4. Epub 2012 Mar 24.
J Inherit Metab Dis. 2012.
PMID: 22447153
Free PMC article.
C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
van de Beek MC, Dijkstra IM, van Lenthe H, Ofman R, Goldhaber-Pasillas D, Schauer N, Schackmann M, Engelen-Lee JY, Vaz FM, Kulik W, Wanders RJ, Engelen M, Kemp S.
van de Beek MC, et al.
PLoS One. 2016 Apr 28;11(4):e0154597. doi: 10.1371/journal.pone.0154597. eCollection 2016.
PLoS One. 2016.
PMID: 27124591
Free PMC article.
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Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.
Schackmann MJ, Ofman R, Dijkstra IM, Wanders RJ, Kemp S.
Schackmann MJ, et al.
Biochim Biophys Acta. 2015 Feb;1851(2):231-7. doi: 10.1016/j.bbalip.2014.12.005. Epub 2014 Dec 11.
Biochim Biophys Acta. 2015.
PMID: 25499606
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Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S.
Schackmann MJ, et al.
Mol Genet Metab. 2016 Jun;118(2):123-7. doi: 10.1016/j.ymgme.2016.03.009. Epub 2016 Apr 3.
Mol Genet Metab. 2016.
PMID: 27067449
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