phytanic acid has been researched along with Adrenoleukodystrophy, Autosomal Neonatal Form in 36 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 12 (33.33) | 18.2507 |
| 2000's | 13 (36.11) | 29.6817 |
| 2010's | 9 (25.00) | 24.3611 |
| 2020's | 2 (5.56) | 2.80 |
| Authors | Studies |
|---|---|
| De Biase, I; Pasquali, M | 1 |
| Braverman, NE; Gavrilov, DK; Loken, PR; Matern, D; Oglesbee, D; Raymond, KM; Stoway, SD; Tortorelli, S; Wegwerth, PJ; White, AL | 1 |
| Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR | 1 |
| Jaya Krishna, S; Maheshwar Reddy, G; Naushad, SM; Subhashini, P; Sushma Chander, N; Usha Rani, G | 1 |
| Borges, CG; Canani, CR; Fernandes, CG; Leipnitz, G; Ribeiro, CA; Seminotti, B; Vargas, CR; Wajner, M; Zanatta, Â | 1 |
| Astudillo, L; Levade, T; Sabourdy, F; Touati, G | 1 |
| Briand, G; Cheillan, D; Feillet, F; Montaut-Verient, B; Schmitt, E; Sorlin, A; Wiedemann, A | 1 |
| Antonetti, G; Bertini, E; Boenzi, S; Cappa, M; Dionisi-Vici, C; Rizzo, C; Semeraro, M | 1 |
| Van Veldhoven, PP | 1 |
| Abdel Maksoud, SA; El-Bassyouni, HT; Ghoneim, W | 1 |
| Mamedov, IS; Novikov, PV; Smolina, IuA; Sukhorukov, VS | 1 |
| Barth, PG; Dekker, C; Gootjes, J; Mooijer, PA; Poll-The, BT; Wanders, RJ; Waterham, HR | 2 |
| Jansen, GA; Lloyd, MD; Mukherji, M; Schofield, CJ; Wanders, RJ; Wierzbicki, AS | 1 |
| Horibe, R; Kondo, N; Shimozawa, N; Suzuki, Y; Takemoto, Y; Wanders, RJ | 1 |
| Johnson, DW; Oe, T; Trinh, MU | 1 |
| Baumgartner, MR; Bonetti, G; Jakobs, C; Nassogne, MC; Peduto, A; Poll-The, BT; Rabier, D; Saudubray, JM; Spada, M; Verhoeven, NM | 1 |
| Alger, S; Burdon, MA; Chavda, S; Clarke, CE; Denis, S; Ferdinandusse, S; Preece, MA; Wanders, RJ | 1 |
| Moser, AB; Otte, JB; Reding, R; Roland, D; Sokal, E; Van Maldergem, L; Vincent, MF; Wanders, RJ | 1 |
| van den Brink, DM; Wanders, RJ | 1 |
| Wierzbicki, AS | 1 |
| Al-Dirbashi, OY; Al-Hassnan, Z; Al-Mokhadab, M; Chedrawi, A; Jacob, M; Rashed, MS; Santa, T; Shimozawa, N | 1 |
| Mihalik, SJ; Rainville, AM; Watkins, PA | 1 |
| Crane, DI; Paton, BC; Poulos, A; Sharp, PC | 1 |
| Denis, S; Jakobs, BS; Jansen, G; Schutgens, RB; van Roermund, CW; Wanders, RJ | 1 |
| Jakobs, C; Kulik, W; van den Heuvel, CM; Verhoeven, NM | 1 |
| Singh, I | 1 |
| Jansen, GA; Mihalik, SJ; Wanders, RJ; Watkins, PA | 1 |
| Jakobs, C; Roe, CR; Schor, DS; Verhoeven, NM; Wanders, RJ | 1 |
| Jakobs, C; Jansen, GA; Mihalik, SJ; Moser, HW; Wanders, RJ; Watkins, PA | 1 |
| Bootsma, AH; Overmars, H; van Gennip, AH; van Lint, AE; Vreken, P; Wanders, RJ | 1 |
| Jakobs, C; Roe, CR; ten Brink, HJ; Verhoeven, NM; Wanders, RJ | 1 |
| Assmann, G; Ellinghaus, P; Seedorf, U; Spener, F; Wolfrum, C | 1 |
| Dennis, N; Elçioglu, N; Fensom, AH; Mohammed, SN; Sankaralingam, A; Slade, CM; Steinberg, SJ | 1 |
| Jakobs, C; Verhoeven, NM | 1 |
| Dacremont, G; Ferdinandusse, S; Rusch, H; van Lint, AE; Vreken, P; Wanders, RJ | 1 |
9 review(s) available for phytanic acid and Adrenoleukodystrophy, Autosomal Neonatal Form
| Article | Year |
|---|---|
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Topics: Chondrodysplasia Punctata, Rhizomelic; Humans; Infant, Newborn; Peroxisomal Disorders; Phytanic Acid; Plasmalogens; Zellweger Syndrome | 2023 |
[Hereditary peroxisomal diseases].
Topics: Adolescent; Adult; Age of Onset; Bone Marrow Transplantation; Brain; Cataract; Child; Decision Trees; Dietary Fats; Fatty Acids; Female; Genes, Recessive; Humans; Hydrogen Peroxide; Infant; Infant, Newborn; Male; Myocardium; Organelle Biogenesis; Peroxisomal Disorders; Peroxisomes; Phenotype; Phytanic Acid | 2016 |
Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.
Topics: Animals; Fatty Acids; Fatty Acids, Unsaturated; Humans; Lipid Metabolism; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phytanic Acid | 2010 |
The chemical biology of branched-chain lipid metabolism.
Topics: Fatty Acids; Humans; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phytanic Acid | 2003 |
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.
Topics: Brain; Combined Modality Therapy; Depressive Disorder; Dysarthria; Electroencephalography; Fatty Acids; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Paresis; Peroxisomal Disorders; Phytanic Acid; Plasma Exchange; Racemases and Epimerases; Reflex, Abnormal; Retinitis Pigmentosa; Treatment Failure; Tremor | 2004 |
Phytanic acid: production from phytol, its breakdown and role in human disease.
Topics: Aldehyde Oxidoreductases; Chondrodysplasia Punctata, Rhizomelic; Humans; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phytanic Acid; Phytol; Protein Transport; Refsum Disease | 2006 |
Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.
Topics: Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid; Refsum Disease | 2007 |
Biochemistry of peroxisomes in health and disease.
Topics: Animals; Arachidonic Acid; Bile Acids and Salts; Biological Transport; Cholesterol; Enzymes; Fatty Acids; Humans; Microbodies; Organ Specificity; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid; Pipecolic Acids; Plasmalogens; Reactive Oxygen Species; Substrate Specificity | 1997 |
Human metabolism of phytanic acid and pristanic acid.
Topics: Fatty Acids; Humans; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phytanic Acid | 2001 |
1 trial(s) available for phytanic acid and Adrenoleukodystrophy, Autosomal Neonatal Form
| Article | Year |
|---|---|
Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry.
Topics: Deuterium; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Indicator Dilution Techniques; Male; Peroxisomal Disorders; Phytanic Acid; Reproducibility of Results; Sensitivity and Specificity | 1998 |
26 other study(ies) available for phytanic acid and Adrenoleukodystrophy, Autosomal Neonatal Form
| Article | Year |
|---|---|
Quantification of Very-Long-Chain and Branched-Chain Fatty Acids in Plasma by Liquid Chromatography-Tandem Mass Spectrometry.
Topics: Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Bile Acids and Salts; Chromatography, Liquid; Coenzyme A; Deanol; Esters; Fatty Acids; Humans; Iodides; Peroxisomal Disorders; Phytanic Acid; Tandem Mass Spectrometry | 2022 |
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 |
Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.
Topics: Adolescent; Adult; Algorithms; Case-Control Studies; Child; Child, Preschool; Diagnosis, Differential; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Genetic Diseases, X-Linked; Humans; Infant; Infant, Newborn; Machine Learning; Male; Peroxisomal Disorders; Phenotype; Phytanic Acid; Young Adult | 2019 |
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.
Topics: Animals; Astrocytes; Cerebellum; Disease Models, Animal; Gliosis; Homeostasis; Male; Neuroprotective Agents; NG-Nitroarginine Methyl Ester; Oxidative Stress; Peroxisomal Disorders; Phytanic Acid; Rats, Wistar; Reactive Nitrogen Species; Time Factors | 2015 |
Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.
Topics: Alanine Transaminase; Arginine; Aspartate Aminotransferases; Child; Child, Preschool; Deafness; Developmental Disabilities; Fatty Acids; Female; Humans; Infant; Membrane Proteins; Muscle Hypotonia; Peroxisomal Disorders; Phytanic Acid; Pipecolic Acids; Sialorrhea | 2016 |
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure
Topics: Atmospheric Pressure; Bile Acids and Salts; Chromatography, High Pressure Liquid; Docosahexaenoic Acids; Fatty Acids; Humans; Peroxisomal Disorders; Phytanic Acid; Tandem Mass Spectrometry | 2016 |
Peroxisomal biogenesis disorder biomarkers.
Topics: Biomarkers; Catalase; Child; Child, Preschool; Cytokines; Fatty Acids; Female; Humans; Infant; Inflammation; Lipid Peroxidation; Lipids; Male; Malondialdehyde; Oxidative Stress; Peroxisomal Disorders; Phenotype; Phytanic Acid; Plasmalogens; Reactive Oxygen Species; ROC Curve; Sensitivity and Specificity; Tumor Necrosis Factor-alpha | 2011 |
[The diagnostic of peroxisomic diseases in children].
Topics: Adolescent; Adult; Child; Child, Preschool; Fatty Acids; Humans; Peroxisomal Disorders; Peroxisomes; Phytanic Acid; Reference Values | 2012 |
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Topics: Acyltransferases; Biomarkers; Fatty Acids; Fibroblasts; Humans; Oxidation-Reduction; Peroxisomal Disorders; Peroxisomes; Phenotype; Phytanic Acid; Plasmalogens; Predictive Value of Tests; Prognosis; Retrospective Studies; Survival; Zellweger Syndrome | 2002 |
Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders.
Topics: Adolescent; Adrenoleukodystrophy; Case-Control Studies; Docosahexaenoic Acids; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans; Infant; Peroxisomal Disorders; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome | 2003 |
Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders.
Topics: Chromatography, High Pressure Liquid; Fatty Acids; Humans; Infant; Peroxisomal Disorders; Phytanic Acid; Spectrometry, Mass, Electrospray Ionization | 2003 |
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Topics: Acyltransferases; Biomarkers; Fatty Acids; Fibroblasts; Humans; Peroxisomal Disorders; Phytanic Acid; Plasmalogens; Prognosis; Skin | 2003 |
Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.
Topics: Adolescent; Adult; Bile Acids and Salts; Chromatography; Fatty Acids; Female; France; Gas Chromatography-Mass Spectrometry; Humans; Immunoblotting; Infant; Italy; Liver; Male; Peroxisomal Disorders; Peroxisomes; Phytanic Acid; Pipecolic Acids | 2004 |
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.
Topics: ATPases Associated with Diverse Cellular Activities; Bile Acids and Salts; Docosahexaenoic Acids; Family Health; Fatty Acids; Female; Humans; Infant; Liver Transplantation; Living Donors; Membrane Proteins; Muscle Hypotonia; Peroxisomal Disorders; Peroxisomes; Phytanic Acid; Time Factors | 2005 |
Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders.
Topics: Biomarkers; Chromatography, Liquid; Fatty Acids; Humans; Peroxisomal Disorders; Phytanic Acid; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2008 |
Phytanic acid alpha-oxidation in rat liver peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors.
Topics: Animals; Ascorbic Acid; Coenzyme A; Female; Formates; Humans; In Vitro Techniques; Iron; Liver; Microbodies; Mitochondria, Liver; Oxidation-Reduction; Oxygenases; Peroxisomal Disorders; Phytanic Acid; Rats | 1995 |
Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defects.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Australia; Bile Acids and Salts; Cells, Cultured; Enoyl-CoA Hydratase; Fatty Acids; Fibroblasts; Genetic Complementation Test; Humans; Hybrid Cells; Isomerases; Microbodies; Multienzyme Complexes; Oxidation-Reduction; Peroxisomal Bifunctional Enzyme; Peroxisomal Disorders; Phytanic Acid; Prenatal Diagnosis; Zellweger Syndrome | 1996 |
Metabolic aspects of peroxisomal disorders.
Topics: Cholesterol; Fatty Acids; Fatty Acids, Unsaturated; Humans; Peroxisomal Disorders; Phospholipids; Phytanic Acid; Pipecolic Acids | 1996 |
Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry.
Topics: Amniotic Fluid; Bile Acids and Salts; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Peroxisomal Disorders; Phytanic Acid; Pipecolic Acids; Pregnancy; Prenatal Diagnosis; Radioisotope Dilution Technique; Reference Values | 1995 |
Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease.
Topics: Humans; Mixed Function Oxygenases; Peroxisomal Disorders; Phytanic Acid; Refsum Disease | 1997 |
Phytanic acid alpha-oxidation in peroxisomal disorders: studies in cultured human fibroblasts.
Topics: Cells, Cultured; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid | 1997 |
Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders.
Topics: Enzyme Inhibitors; Humans; Imidazoles; Liver; Mixed Function Oxygenases; Peroxisomal Disorders; Phytanic Acid; Propyl Gallate | 1998 |
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.
Topics: Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Oxidation-Reduction; Peroxisomal Disorders; Phytanic Acid | 1998 |
Phytanic acid activates the peroxisome proliferator-activated receptor alpha (PPARalpha) in sterol carrier protein 2-/ sterol carrier protein x-deficient mice.
Topics: Acyl-CoA Oxidase; Animals; Carrier Proteins; DNA-Binding Proteins; Ligands; Mice; Mice, Inbred C57BL; Mice, Knockout; Oxidoreductases; Peroxisomal Disorders; Phytanic Acid; Plant Proteins; Rats; Receptors, Cytoplasmic and Nuclear; RNA, Messenger; Transcription Factors; Tumor Cells, Cultured | 1999 |
Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families.
Topics: Cells, Cultured; Child; Child, Preschool; Female; Fibroblasts; Humans; Infant, Newborn; Male; Peroxisomal Disorders; Phenotype; Phytanic Acid; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal; Zellweger Syndrome | 1999 |
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 |