An unusual presentation of X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-y...

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Detalles Bibliográficos
Autores principales: Suryawanshi, Avinash, Middleton, Timothy, Ganda, Kirtan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655831/
https://www.ncbi.nlm.nih.gov/pubmed/26609365
http://dx.doi.org/10.1530/EDM-15-0098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655831/
https://www.ncbi.nlm.nih.gov/pubmed/26609365
http://dx.doi.org/10.1530/EDM-15-0098

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