Work

Alpha-Methylacyl-CoA Racemase (AMACR) Deficiency Presenting with Epilepsy, Cognitive Decline, and Pigmentary Retinopathy

Year: 2026

Type: article

Study design: Case Report

Source: Ophthalmic surgery, lasers & imaging retina

DOI: 10.3928/23258160-20261007-02

Authors: Sana Adam, Javeria Muid, Antonio Valastro, Gabriella De Salvo

Institutions: Papworth Hospital NHS Foundation Trust, University Hospital Southampton NHS Foundation Trust, University of Southampton

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7225141556

FWCI:

Cites: 11

Cited by:

Related to: 10