Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report

• Autores principales: Bita Barazandeh Shirvan (Autor), Najmeh Ahangari (Autor), Razie Rezaie (Autor), Parvaneh Layegh (Autor), Ehsan Ghayoor Karimiani (Autor), Narges Hashemi (Autor), Mehran Beiraghi Toosi (Autor)
• Formato: Libro
• Publicado: BMC, 2024-11-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background Zellweger spectrum disorders (ZSDs) are a group of peroxisome biogenesis disorders (PBDs) with different variants in the PEX genes. The main biochemical marker for screening peroxisomal disorders is very long-chain fatty acids (VLCFAs). The study reveals a rare case of PBD in the...