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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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| Publicado en: | Endocrinol Diabetes Metab Case Rep |
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| Autores principales: | , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Bioscientifica Ltd
2015
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4655831/ https://ncbi.nlm.nih.gov/pubmed/26609365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-15-0098 |
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