• <em>PEX6</em> Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review
• Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder
• Acute zonal occult outer retinopathy in a patient with retinitis pigmentosa
• Adult Refsum Disease in Puerto Rico: A Case Report
• Association of Long-term Exposure to Air Pollution and Dementia Risk: The Role of Homocysteine, Methionine, and Cardiovascular Burden
• Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
• Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Potential relevance for the cardiomyopathy in Refsum disease
• Divergent Survival Outcomes Associated with Elevated Branched-Chain Amino Acid Levels among Older Adults with or without Hypertension and Diabetes: A Validated, Prospective, Longitudinal Follow-Up Study
• Electrodiagnostic Evaluation of Peripheral Neuropathy
• Elevated homocysteine is associated with increased rates of epigenetic aging in a population with mild cognitive impairment
• Evidence of increases of phytol and chlorophyllide by enzymatic dephytylation of chlorophylls in smoothie made from spinach leaves
• Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
• NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance
• PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review
• PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
• Phytanic Acid Intake and Lifestyle Modifications on Quality of Life in Individuals with Adult Refsum Disease: A Retrospective Survey Analysis
• Phytanic acid, an inconclusive phytol metabolite: A review
• Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
• Refsum Disease
• Refsum Disease
• Risk of malignant lymphomas in patients with inflammatory bowel disease: a population-based cohort study
• The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study
• The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Syndrome