Article
X-linked adrenoleukodystrophy: first report of the Italian Study Group.
Italian journal of neurological sciences - 1 Oct 1998
Di Biase A, Salvati S, Avellino C, Cappa M, Bertini E, Moroni I, Rimoldi M, Uziel G
Abstract excerpt
In this paper we report Italian data on X-linked adrenoleukodystrophy (ALD) collected from 1985 to 1997. This disease appears to be the most common of the peroxisomal disorders and is associated with a functional defect of the peroxisomal very long chain fatty acid (VLCFA) oxidation. In Italy 117 cases have been recognized, but many cases may be unrecognized due to the heterogeneous clinical manifestations that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
