pristanic acid has been researched along with Adult Refsum Disease in 17 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 1 (5.88) | 18.7374 |
| 1990's | 9 (52.94) | 18.2507 |
| 2000's | 5 (29.41) | 29.6817 |
| 2010's | 2 (11.76) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR | 1 |
| Kahlert, S; Kruska, N; Reiser, G; Rönicke, S | 1 |
| Kruska, N; Reiser, G | 1 |
| Gäckler, D; Kingreen, H; Klingel, R; Muselmann, L; Straube, R; Thiele, A | 1 |
| Dacremont, G; Jansen, GA; Rontani, JF; van den Brink, DM; van Miert, JN; Wanders, RJ | 1 |
| Barker, RA; Calvin, J; Ferdinandusse, S; Hogg, S; Thompson, SA; Wanders, RJ | 1 |
| Barbosa, E; Pahan, K; Singh, AK; Singh, I | 1 |
| Molzer, B; Schmitt, K; Stöckler, S; Tulzer, G; Tulzer, W | 1 |
| Eyssen, HJ; Huang, S; Mannaerts, GP; Van Veldhoven, PP | 1 |
| Dacremont, G; Ferdinandusse, S; Rusch, H; van Lint, AE; Vreken, P; Wanders, RJ | 1 |
| Jakobs, C; Kneer, J; Kok, RM; Poll-The, BT; Saudubray, JM; Schor, DS; Stellaard, F; ten Brink, HJ | 1 |
| Jakobs, C; Kok, RM; Schor, DS; Stellaard, F; ten Brink, HJ; van den Heuvel, CM; Wanders, RJ | 1 |
| Chow, CW; Christodoulou, J; Danks, DM; Fellenberg, AJ; Poulos, A | 1 |
| Jakobs, C; Kok, RM; Poll-The, BT; Schor, DS; ten Brink, HJ; Wanders, RJ | 1 |
| Johnson, D; Poulos, A; Singh, H; Usher, S | 1 |
| Jakobs, C; Schutgens, RB; Stellaard, F; ten Brink, HJ; Wanders, RJ | 1 |
| Fellenberg, AJ; Johnson, DW; Poulos, A; Sharp, P | 1 |
17 other study(ies) available for pristanic acid and Adult Refsum Disease
| Article | Year |
|---|---|
Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.
Topics: Carnitine; Cells, Cultured; Diterpenes; Fatty Acids; Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid; Refsum Disease | 2017 |
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes.
Topics: Animals; Animals, Newborn; Astrocytes; Calcium; Cells, Cultured; Fatty Acids; Hippocampus; Mitochondria; Neurons; Oligodendroglia; Phytanic Acid; Rats; Rats, Wistar; Refsum Disease | 2009 |
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.
Topics: Calcium Signaling; Cell Line, Tumor; Fatty Acids; Fatty Acids, Nonesterified; HEK293 Cells; Humans; Inositol 1,4,5-Trisphosphate; Intracellular Fluid; Linoleic Acid; Lipid Metabolism; Methylamines; Phytanic Acid; Propionates; Receptors, G-Protein-Coupled; Refsum Disease | 2011 |
Membrane differential filtration is safe and effective for the long-term treatment of Refsum syndrome--an update of treatment modalities and pathophysiological cognition.
Topics: Blood Component Removal; Diseases in Twins; Fatty Acids; Female; Filtration; Humans; Lipid Metabolism; Lipoproteins, LDL; Middle Aged; Mutation; Phytanic Acid; Picolinic Acids; Refsum Disease | 2003 |
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid.
Topics: Aldehyde Oxidoreductases; Cell Culture Techniques; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Molecular Structure; Phytanic Acid; Phytol; Refsum Disease; Sjogren-Larsson Syndrome | 2004 |
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.
Topics: Amino Acid Substitution; Brain; Brain Diseases, Metabolic, Inborn; Cerebral Cortex; Dementia; Fatty Acids; Female; Gene Expression Regulation, Enzymologic; Heredodegenerative Disorders, Nervous System; Homozygote; Humans; Magnetic Resonance Imaging; Middle Aged; Neurologic Examination; Neuropsychological Tests; Peroxisomal Disorders; Phenotype; Point Mutation; Racemases and Epimerases; Recurrence; Refsum Disease; Sequence Analysis, DNA | 2008 |
Refsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomes.
Topics: Cells, Cultured; Coenzyme A Ligases; Endoplasmic Reticulum; Fatty Acids; Fibroblasts; Humans; Microbodies; Mitochondria; Oxidation-Reduction; Phytanic Acid; Refsum Disease | 1993 |
[Zellweger syndrome, neonatal adrenoleukodystrophy or infantile Refsum's disease in a case with generalized peroxisome defect?].
Topics: Adrenoleukodystrophy; Catalase; Fatty Acids; Humans; Infant; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome | 1993 |
The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders.
Topics: Adrenoleukodystrophy; Cell Line; Fatty Acids; Fibroblasts; Humans; Kinetics; Microbodies; Oxidation-Reduction; Palmitates; Phytanic Acid; Refsum Disease; X Chromosome; Zellweger Syndrome | 1993 |
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.
Topics: Fatty Acids; Humans; Mixed Function Oxygenases; Oxidation-Reduction; Oxidoreductases; Peroxisomal Disorders; Phytanic Acid; Racemases and Epimerases; Refsum Disease; Stereoisomerism | 2002 |
In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata.
Topics: Administration, Oral; Adult; Carbon Dioxide; Chondrodysplasia Punctata; Fatty Acids; Humans; Infant; Male; Oxidation-Reduction; Phytanic Acid; Refsum Disease | 1992 |
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
Topics: Aging; Child, Preschool; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Indicator Dilution Techniques; Infant; Infant, Newborn; Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease | 1992 |
Autopsy findings in two siblings with infantile Refsum disease.
Topics: Adrenal Glands; Fatty Acids; Female; Humans; Infant; Liver; Microbodies; Phytanic Acid; Refsum Disease | 1992 |
Phytanic acid alpha-oxidation: accumulation of 2-hydroxyphytanic acid and absence of 2-oxophytanic acid in plasma from patients with peroxisomal disorders.
Topics: Adolescent; Adult; Carbon Radioisotopes; Child; Child, Preschool; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Middle Aged; Phytanic Acid; Refsum Disease | 1992 |
Metabolism of branched chain fatty acids in peroxisomal disorders.
Topics: Adrenoleukodystrophy; Cells, Cultured; Chondrodysplasia Punctata; Fatty Acids; Fibroblasts; Heptanoic Acids; Humans; Metabolism, Inborn Errors; Microbodies; Oxidation-Reduction; Refsum Disease; Stearic Acids; Zellweger Syndrome | 1990 |
Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency.
Topics: Fatty Acids; Humans; Microbodies; Mixed Function Oxygenases; Oxidation-Reduction; Oxidoreductases; Phytanic Acid; Proteins; Refsum Disease | 1991 |
Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.
Topics: Adrenoleukodystrophy; Chondrodysplasia Punctata; Fatty Acids; Humans; Lipidoses; Microbodies; Phytanic Acid; Refsum Disease | 1988 |