Refsum Disease Presenting with a Late-Onset Leukodystrophy

Adult Refsum disease is an autosomal recessive peroxisomal disorder characterized by phytanic acid storage. Clinical symptoms usually begin in late childhood before the age of 20. Typical clinical presentation includes nyctalopia caused by retinitis pigmentosa, and anosmia. After 10–15 years, deafne...

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Bibliographic Details
Published in:JIMD Rep
Main Authors: Bompaire, Flavie, Marcaud, Véronique, Trionnaire, Emmanuelle Le, Sedel, Frédéric, Levade, Thierry
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2015
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501234/
https://ncbi.nlm.nih.gov/pubmed/25604618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_355
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