Search Results - "van Engen, Catherine E."

The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy by Ofman, Rob, Dijkstra, Inge M. E., van Roermund, Carlo W. T., Burger, Nena, Turkenburg, Marjolein, van Cruchten, Arno, van Engen, Catherine E., Wanders, Ronald J. A., Kemp, Stephan

“…X‐linked adrenoleukodystrophy (X‐ALD) is caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP)…”
Get full text

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids by van Engen, Catherine E., Ofman, Rob, Dijkstra, Inge M.E., van Goethem, Tessa Jacobs, Verheij, Eveline, Varin, Jennifer, Vidaud, Michel, Wanders, Ronald J.A., Aubourg, Patrick, Kemp, Stephan, Barbier, Mathieu

“…X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations…”
Get full text