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...

Descripción completa

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

Internet

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

Ejemplares similares