ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case series

SUMMARY: 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...

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Detalles Bibliográficos
Autores principales: Mohn, Angelika, Polidori, Nella, Aiello, Chiara, Rizzo, Cristiano, Giannini, Cosimo, Chiarelli, Francesco, Cappa, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185536/
https://www.ncbi.nlm.nih.gov/pubmed/34013890
http://dx.doi.org/10.1530/EDM-20-0125

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8185536/
https://www.ncbi.nlm.nih.gov/pubmed/34013890
http://dx.doi.org/10.1530/EDM-20-0125

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