Disease: Refsum disease with increased pipecolic acidemia
- 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease
- A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation
- A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D
- A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C
- A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways
- Aberrant Neuregulin 1/ErbB Signaling in Charcot-Marie-Tooth Type 4D Disease
- Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants
- Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction
- Attenuated prostaglandin formation in peroxisomal-deficient human skin fibroblasts
- Autopsy findings in two siblings with infantile Refsum disease
- Bile acids in peroxisomal disorders
- Biogenesis of peroxisomes in fetal liver
- Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart
- Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: plasma changes and skin fibroblast phytanic acid oxidase
- Changes underlying arrhythmia in the transgenic heart overexpressing Refsum disease gene-associated protein
- Characterization of phytanic acid omega-hydroxylation in human liver microsomes
- Clinical and biochemical follow up of Refsum's disease (author's transl)
- Clinical and Laboratory Diagnosis of Peroxisomal Disorders
- Clinical biochemistry of peroxisomal disorders
- Conventional and advanced MR imaging in infantile Refsum disease
- Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
- Diagnosis of peroxisomal disorders with neurological involvement
- Differential diagnosis of congenital lipidoses by lipid analyses of body fluids, biopsy and autopsy tissue
- Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels
- Disorders related to the metabolism of phytanic acid
- Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Potential relevance for the cardiomyopathy in Refsum disease
- Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children
- Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease
- Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders
- Epidermal metabolism in heredopathia atactica polyneuritiformis (Refsum's disease)
- Eponym: Refsum's disease: increased acid and unsteady base
- Evidence of increases of phytol and chlorophyllide by enzymatic dephytylation of chlorophylls in smoothie made from spinach leaves
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
- Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up
- Hereditary and acquired polyneuropathies. Electrophysiologic aspects
- Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment
- Human liver pathology in peroxisomal diseases: a review including novel data
- Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders
- Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D
- Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase
- Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid
- Identification of PAHX, a Refsum disease gene
- Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes
- In vitro evidence that phytanic acid compromises Na(+),K(+)-ATPase activity and the electron flow through the respiratory chain in brain cortex from young rats
- Increased concentration of phytanic acid in plasma and liver of an infant with cerebral damage of unknown etiology (author's transl)
- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
- Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?
- Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease
- Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
- Mechanism of toxicity of the branched-chain fatty acid phytanic acid, a marker of Refsum disease, in astrocytes involves mitochondrial impairment
- Metabolism of phytanic acid and 3-methyl-adipic acid excretion in patients with adult Refsum disease
- Molecular genetics of peroxisomal disorders
- Molecular species of phosphatidylcholine containing very long chain fatty acids in human brain: enrichment in X-linked adrenoleukodystrophy brain and diseases of peroxisome biogenesis brain
- NDRG1 functions in LDL receptor trafficking by regulating endosomal recycling and degradation
- Ndrg1 in development and maintenance of the myelin sheath
- Neonatal adrenoleukodystrophy
- Neurochemical evidence that phytanic acid induces oxidative damage and reduces the antioxidant defenses in cerebellum and cerebral cortex of rats
- Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder
- Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms
- Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
- Peroxisomal disorders: clinical commentary and future prospects
- Peroxisomal L-pipecolic acid oxidation is deficient in liver from Zellweger syndrome patients
- Peroxisomes in fibroblasts from skin of Refsum's disease patients
- Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
- Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders
- Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors
- Phytanic acid and pristanic acid, branched-chain fatty acids associated with Refsum disease and other inherited peroxisomal disorders, mediate intracellular Ca2+ signaling through activation of free fatty acid receptor GPR40
- Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders
- Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated gamma-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease
- Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease
- Phytanic acid disturbs mitochondrial homeostasis in heart of young rats: a possible pathomechanism of cardiomyopathy in Refsum disease
- Phytanic acid induces Neuro2a cell death via histone deacetylase activation and mitochondrial dysfunction
- Phytanic Acid toxicity: implications for the permeability of the inner mitochondrial membrane to ions
- Phytol and peroxisome proliferation
- Plasma and skin fibroblast C26 fatty acids in infantile Refsum's disease
- Plasma lipoproteins and monocyte-macrophages in a peroxisome-deficient system: study of a patient with infantile refsum disease
- Plasma polyenoic very-long-chain fatty acids in peroxisomal disease: biochemical discrimination of Zellweger's syndrome from other phenotypes
- Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
- Polarizing inclusions in some organs of children with congenital peroxisomal diseases (Zellweger's, Refsum's, chondrodysplasia punctata (rhizomelic form), X-linked adrenoleukodystrophy)
- Postnatal diagnosis of peroxisomal disorders: a biochemical approach
- Postnatal expression and distribution of Refsum disease gene associated protein in the rat retina and visual cortex: effect of binocular visual deprivation
- Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography
- Ratios for very-long-chain fatty acids in plasma of subjects with peroxisomal disorders, as determined by HPLC and validated by gas chromatography-mass spectrometry
- Reactive nitrogen species mediate oxidative stress and astrogliosis provoked by in vivo administration of phytanic acid in cerebellum of adolescent rats: A potential contributing pathomechanism of cerebellar injury in peroxisomal disorders
- Refsum Disease
- Refsum Disease
- Refsum disease diagnostic marker phytanic acid alters the physical state of membrane proteins of liver mitochondria
- Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
- Refsum's disease
- Refsum's disease. Epidemiologic, clinical and biological correlation. 6 cases
- Refsum's syndrome (author's transl)
- Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
- Restoring the DHA levels in the brains of Zellweger patients
- The Refsum disease marker phytanic acid, a branched chain fatty acid, affects Ca2+ homeostasis and mitochondria, and reduces cell viability in rat hippocampal astrocytes
- Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation
- Treatment of infantile phytanic acid storage disease: clinical, biochemical and ultrastructural findings in two children treated for 2 years
- Two siblings of Leber's congenital amaurosis with an increase in very long chain fatty acid in blood: relationship between peroxisomal disorders and Leber's congenital amaurosis
- Ultrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization
- Very long-chain fatty acids in peroxisomal disease
- Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections