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

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...

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Autors principals:	Bita Barazandeh Shirvan, Najmeh Ahangari, Razie Rezaie, Parvaneh Layegh, Ehsan Ghayoor Karimiani, Narges Hashemi, Mehran Beiraghi Toosi
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-11-01
Col·lecció:	BMC Pediatrics
Matèries:	Peroxisome biogenesis disorders Very long-chain fatty acids (VLCFAs) WES VUS PEX6
Accés en línia:	https://doi.org/10.1186/s12887-024-05246-4
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