ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series
Adrenoleukodystrophy is a peroxisomal X-linked recessive disease caused by mutations in the ABCD1 gene, located on the X-chromosome (Xq28). Gene mutations in patient with adrenoleukodystrophy induce metabolic alterations characterized by impaired peroxisomal beta-oxidation and accumulation of very l...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2021-05-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM20-0125.xml |