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An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene.
No clinical trials have been registered for adult Refsum disease due to PEX7 defect.
2 publications have been identified in PubMed for adult Refsum disease due to PEX7 defect. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Chen WW (2025). [PMID: 40739340](https://pubmed.ncbi.nlm.nih.gov/40739340/). *Nat Cell Biol*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 12:35 AM UTC
Common questions about adult Refsum disease due to PEX7 defect