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:	Salim Arous, Ilyas Atlas, Amina Arous, Hatim Zahidi, El Ghali Mohamed Benouna, Rachida Habbal
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2024-09-01
Serija:	Journal of Medical Case Reports
Teme:	Dilated cardiomyopathy Refsum disease Phytanic acid
Online dostop:	https://doi.org/10.1186/s13256-024-04789-5
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