Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency

PURPOSE: Alpha-methylacyl-CoA racemase (AMACR) deficiency is a peroxisomal disorder due to biallelic mutations in AMACR. At least 13 genetically confirmed patients have been reported to date. Seven had obvious pigmentary retinopathy; however, for the other six, no retinal phenotype was mentioned. Th...

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Detalles Bibliográficos
Autores principales: Alsalamah, Abrar K., Khan, Arif O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254661/
https://www.ncbi.nlm.nih.gov/pubmed/34267495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8254661/
https://www.ncbi.nlm.nih.gov/pubmed/34267495

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