Dilated cardiomyopathy revealing Refsum disease: a case report
Abstract Background Refsum disease is a rare autosomal recessive hereditary disorder of lipid metabolism that results in the accumulation of phytanic acid. This syndrome is characterized with a range of classic symptoms including ataxia, peripheral neuropathy, amyotrophy, retinopathy, ichthyosis, an...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2024-09-01
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| coleção: | Journal of Medical Case Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13256-024-04789-5 |
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