Adrenoleucodistrofia ligada al X con patrón radiológico atípico

Volume: 66, Issue: 07, Pages: 237 - 237
Published: Jan 1, 2018
Abstract
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It is due to a mutation in the ABCD1 gene. The loss of functioning of ABCD1 triggers ineffective beta oxidation of very long-chain fatty acids, which gives rise to an accumulation of these fatty acids. The typical alteration revealed in neuroimaging scans in the cerebral form is symmetrical periventricular demyelination with posterior location.We report the case of a...
Paper Details
Title
Adrenoleucodistrofia ligada al X con patrón radiológico atípico
Published Date
Jan 1, 2018
Volume
66
Issue
07
Pages
237 - 237
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