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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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2024-11-01
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| Schriftenreihe: | BMC Pediatrics |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1186/s12887-024-05246-4 |
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