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Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepa...

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Detalles Bibliográficos
Autores principales:	Elghawy, Omar, Zhang, Alice Y., Duong, Ryan, Wilson, William G., Shildkrot, Eugene Y.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8520494/ https://www.ncbi.nlm.nih.gov/pubmed/34664020 http://dx.doi.org/10.1155/2021/1345937

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