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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...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
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BioMed Central
2008
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| 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 |