Refsum Disease Latest Advances
Find the Latest Research About Refsum Disease
Last Updated: 06/30/2026
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Found 857 publications
Synthesis of stable isotope labeled analogs of phytanic acid for separate and combined tracing of alpha-, beta- and omega-oxidation.
Journal: bioRxiv : the preprint server for biology
Published: December 15, 2025
A unique case of microspherophakia in adult Refsum disease.
Journal: American journal of ophthalmology case reports
Published: August 27, 2025
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
Diagnosis and Metabolic Management of Adult Refsum Disease: Guidance From the Medical and Scientific Committee of Global DARE (Defeat Adult Refsum Everywhere).
Journal: Journal of inherited metabolic disease
Published: October 28, 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
Last Updated: 06/30/2026