Affiliation: Johns Hopkins University
- Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreatedParastoo Jangouk
Department of Neurology, Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Mol Genet Metab 105:180-5. 2012..We reviewed the clinical presentations in the carrier population, the distinct disability profile and neuroimaging findings in order to put together pieces of this neglected segment in X-ALD and give direction to further studies...