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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...
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| Publicado no: | Endocrinology, Diabetes & Metabolism Case Reports |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Publicado em: |
Bioscientifica
2021-05-01
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| Acesso em linha: | https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM20-0125.xml |
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