Adrenoleukodystrophy--a new mutation identified.
Vachalova I, Chandoga J, Petrovic R, +3 more·Bratislavske lekarske listy
INTRODUCTION: X-linked adrenoleukodystrophy from the group of peroxisomal disorders presents with an extensive spectrum of phenotypes. The mutation affects the ABCD1 gene encoding a peroxisomal membrane protein. So far, its detailed function has not been clarified. However, it plays an essential role in the ethiopathog…