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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發表在:Endocrinol Diabetes Metab Case Rep
Main Authors: Mohn, Angelika, Polidori, Nella, Aiello, Chiara, Rizzo, Cristiano, Giannini, Cosimo, Chiarelli, Francesco, Cappa, Marco
格式: Artigo
語言:Inglês
出版: Bioscientifica Ltd 2021
主題:
Unique/Unexpected Symptoms or Presentations of a Disease
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8185536/
https://ncbi.nlm.nih.gov/pubmed/34013890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0125
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