• <em>PEX6</em> Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review
• A <em>Pex7</em> Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
• A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D
• A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1
• A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D
• Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease
• Activation of a cGAS-STING-mediated immune response predicts response to neoadjuvant chemotherapy in early breast cancer
• Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder
• Acute zonal occult outer retinopathy in a patient with retinitis pigmentosa
• Adult onset seizures in learning disability
• Adult Refsum Disease in Puerto Rico: A Case Report
• Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review
• An overview of epidermal lamellar bodies: Novel roles in biological adaptations and secondary barriers
• Anti-<em>N</em>-homocysteine-protein autoantibodies are associated with impaired cognition
• Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders
• Association of Homocysteine, Methionine, and MTHFR 677C&gt;T Polymorphism With Rate of Cardiovascular Multimorbidity Development in Older Adults in Sweden
• Association of Long-term Exposure to Air Pollution and Dementia Risk: The Role of Homocysteine, Methionine, and Cardiovascular Burden
• Association of Methionine to Homocysteine Status With Brain Magnetic Resonance Imaging Measures and Risk of Dementia
• Associations between plasma sulfur amino acids and specific fat depots in two independent cohorts: CODAM and The Maastricht Study
• B Vitamins Prevent Iron-Associated Brain Atrophy and Domain-Specific Effects of Iron, Copper, Aluminum, and Silicon on Cognition in Mild Cognitive Impairment
• Body mass index determines the response of plasma sulfur amino acids to methionine loading
• Cardiac Involvement in Movement Disorders
• Cardiovascular disease risk associated with serum apolipoprotein B is modified by serum vitamin A
• Cataract surgery outcomes and complications in retinal dystrophy patients
• Changes in plasma fatty acids and related biomarkers during transition to an exclusively plant- and fish-based diet in healthy adults
• Clinical and Laboratory Diagnosis of Peroxisomal Disorders
• Cochlear Implantation in Refsum Disease with Facial Nerve Enlargement
• Cochlear Implantation in Siblings With Refsum's Disease
• Creatinine, total cysteine and uric acid are associated with serum retinol in patients with cardiovascular disease
• Current and Promising Therapies in Autosomal Recessive Ataxias
• Dementia Prevention by Disease-Modification through Nutrition
• 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
• 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
• Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
• Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
• Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology
• Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <em>PEX3</em> defect: Case report and literature review
• Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome
• Glutathione Serum Levels and Rate of Multimorbidity Development in Older Adults
• Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)
• HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8
• Homocysteine - from disease biomarker to disease prevention
• Homocysteine and Dementia: An International Consensus Statement
• Homocysteine Status Modifies the Treatment Effect of Omega-3 Fatty Acids on Cognition in a Randomized Clinical Trial in Mild to Moderate Alzheimer's Disease: The OmegAD Study
• How the brain fights fatty acids' toxicity
• Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders
• Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D
• Improved electroretinographic responses following dietary intervention in a patient with Refsum disease
• Inborn Errors of Metabolism: Refsum Disease
• Inflammatory bowel disease and risk of adenocarcinoma and neuroendocrine tumors in the small bowel
• Kynurenine Pathway Metabolites in Alzheimer's Disease
• Laboratory investigations
• Laparoscopy-assisted versus balloon enteroscopy-assisted ERCP after Roux-en-Y gastric bypass
• Lipidomic Analysis: From Archaea to Mammals
• Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up
• Mortality in Norway and Sweden during the COVID-19 pandemic
• NDRG1 is induced by antigen-receptor signaling but dispensable for B and T cell self-tolerance
• Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid
• Paraoxonase 1, B Vitamins Supplementation, and Mild Cognitive Impairment
• Peripheral Leakage on Ultra-Widefield Fluorescein Angiography in Patients With Inherited Retinal Degeneration
• Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans
• 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
• Phytol-induced pathology in 2-hydroxyacyl-CoA lyase (HACL1) deficient mice. Evidence for a second non-HACL1-related lyase
• Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease
• Plasma Sulfur Amino Acids and Risk of Cerebrovascular Diseases: A Nested Case-Control Study in the EPIC-Norfolk Cohort
• Pregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother
• Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
• Pronounced band keratopathy in Refsum's syndrome
• Recent advances in liver transplantation for metabolic disease
• Refsum Disease
• Refsum Disease
• Retinal dystrophies: A look beyond the eyes
• Reversible vestibular neuropathy in adult Refsum disease
• Risk of hepato-pancreato-biliary cancer is increased by primary sclerosing cholangitis in patients with inflammatory bowel disease: A population-based cohort study
• Risk of malignant lymphomas in patients with inflammatory bowel disease: a population-based cohort study
• Screening for ocular involvement in deaf children
• Spectral Domain Optical Coherence Tomography (SD-OCT) Findings in Refsum's Disease
• Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics
• Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'
• The Associations of Habitual Intake of Sulfur Amino Acids, Proteins and Diet Quality with Plasma Sulfur Amino Acid Concentrations: The Maastricht Study
• The kynurenine pathway and cognitive performance in community-dwelling older adults. The Hordaland Health Study
• The physiological functions of human peroxisomes
• The relation of CUN-BAE index and BMI with body fat, cardiovascular events and diabetes during a 6-year follow-up: the Hordaland Health Study
• The risk association of plasma total homocysteine with acute myocardial infarction is modified by serum vitamin A
• The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease
• Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation
• Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B
• Unplanned readmission and outpatient examination 90-days after acute appendectomy in adults
• Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017)
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Syndrome