Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family
“Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family”, vol. 10, pp. 65-74, 2011.
, Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder. It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain fatty acids in plasma and tissues, especially in the cortex of adrenal glands and white matter of the central nervous system, causing demyelinating disease and adrenocortical insufficiency (Addison’s disease).