Abrar K Alsalamah Arif O Khan
Mol Vis
2021 Jul 1;27:396-402.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/34267495/
Lipid Metabolism, Inborn Errors / genetics Nervous System Diseases / genetics Racemases and Epimerases / deficiency Retina / physiopathology Retinal Diseases / enzymology Retinal Diseases / physiopathology
Lipid Metabolism, Inborn Errors / genetics Nervous System Diseases / genetics Racemases and Epimerases / deficiency Retina / physiopathology Retinal Diseases / enzymology Retinal Diseases / physiopathology Adolescent Electroretinography Exome Sequencing Female Humans Male Multimodal Imaging Pedigree Racemases and Epimerases / genetics Retinal Diseases / genetics Retrospective Studies Siblings Young Adult Racemases and Epimerases Alpha-Methylacyl-CoA Racemase Deficiency
PMC8254661
34267495
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency
2021