ChapterChapter 6 Mutation ss in the gene encoding peroxisomal a-methylacyl-CoA racemasee cause adult-onset sensory motor neuropathy

@inproceedings{Ferdinandusse2007ChapterChapter6M,
  title={ChapterChapter 6 Mutation ss in the gene encoding peroxisomal a-methylacyl-CoA racemasee cause adult-onset sensory motor neuropathy},
  author={Sachaa Ferdinandusse and Sylvain Denis and Peter Theodore Clayton and A. Graham and J Rees and J. Thomas Allen and Brendan N Mclean and Ann Brown and Peter Vreken and H. R. Waterham and andd Ronald J. A. Wanders},
  year={2007}
}
  • Sachaa Ferdinandusse, Sylvain Denis, +8 authors andd Ronald J. A. Wanders
  • Published 2007
t Sensor yy motor neuropathy is associate d with various inherited disorder s including Charcot-Marie-Toot hh diseas e (1,2), X-linked adrenoleukodystrophy/adrenomyelo neuropathyy (3) and Refsum diseas e (4). In the latter two, the neuropathy is thought to resul tt from the accumulation of specifi c fatty acids. We describe here three patient s with elevatedd plasma concentration s of pristani c acid (a branched-chai n fatty acid) and C27-bile acidd intermediates . Two of the patient s suffered… CONTINUE READING

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