الباحثون

Ahmed Mansy

المنشورات 2

مقال بحثي وصول مفتوح

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series

Bushra Al Shamsi, أنورادها غانيش, Beena Harikrishna وآخرون · مجلة عُمان الطبية · 2026 · 10.5001/omj.2025.34

Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal recessive disorder that manifests as retinal dystrophy and leukodystrophy. We report five Omani patien …

المؤلفون المشاركون