Acute intermittent porphyria-related leukoencephalopathy.
Kevelam SH, Neeleman RA, Waisfisz Q, Friesema EC, Langendonk JG, van der Knaap MS
Neurology, 2016 Sep 20
Abstract
To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family.