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Autor:
Catherine E. van Engen, Eveline Verheij, Inge M. E. Dijkstra, Mathieu Barbier, Jennifer Varin, Ronald J.A. Wanders, Stephan Kemp, Tessa H. Jacobs van Goethem, Michel Vidaud, Rob Ofman, Patrick Aubourg
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1862(10), 1861-1870. Elsevier
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating diseas