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Midlife diagnosis of Refsum Disease in siblings with Retinitis Pigmentosa – the footprint is the clue: a case report

<p>Abstract</p> <p>Introduction</p> <p>Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations.</p> <p>Case presentation</p> <p>W...

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Autori principali: Jayaram Hari, Downes Susan M
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2008-03-01
Serie:Journal of Medical Case Reports
Accesso online:http://www.jmedicalcasereports.com/content/2/1/80
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