Αρχειοθήκη ιστολογίου

Σάββατο 23 Δεκεμβρίου 2017

Evaluation of afferent pain pathways in adrenomyeloneuropathic patients

X-linked adrenoleukodystrophy (ALD) is an inherited disorder of peroxisomal metabolism characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in the brain, adrenal cortex and plasma. It is caused by mutations in the ABCD1 gene, which encodes an adenosine triphosphate-binding cassette peroxisomal transporter, involved in the import of VLCFA into the peroxisome for degradation (Moser et al., 2004). There is an evident wide range of phenotypic variability: childhood, adolescent and adult cerebral forms of ALD, adrenomyeloneuropathy (AMN), Addison's disease only and presymptomatic or asymptotic phenotype (Moser, 1997).

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2C1mlYZ

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου