Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 851 publications
Inborn Errors of Metabolism: Refsum Disease.
Journal: Advances in experimental medicine and biology
Published: July 30, 2025
PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.
Journal: Cerebellum (London, England)
Published: May 22, 2025
The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.
Journal: International journal of molecular sciences
Published: December 24, 2024
Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.
Journal: Clinical & experimental optometry
Published: September 15, 2024
Dilated cardiomyopathy revealing Refsum disease: a case report.
Journal: Journal of medical case reports
Published: July 30, 2024
Syndromic retinitis pigmentosa.
Journal: Progress in retinal and eye research
Published: July 17, 2024
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Journal: Investigative ophthalmology & visual science
Published: February 27, 2024
Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.
Journal: Molecular syndromology
Published: January 25, 2024
The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.
Journal: Klinische Monatsblatter fur Augenheilkunde
Published: May 10, 2023
Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis.
Journal: Nutrients
Published: May 10, 2023
Last Updated: 10/31/2025