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

INTRODUCTION: Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent some of the systemic manifestations. CASE PRESENTATION: We present the cases of two brothers with a diagnosis of retinitis pigmentosa from childhood...

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Detalles Bibliográficos
Autores principales: Jayaram, Hari, Downes, Susan M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275283/
https://www.ncbi.nlm.nih.gov/pubmed/18336720
http://dx.doi.org/10.1186/1752-1947-2-80

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275283/
https://www.ncbi.nlm.nih.gov/pubmed/18336720
http://dx.doi.org/10.1186/1752-1947-2-80

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