phytanic acid has been researched along with Zellweger Syndrome in 27 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (7.41) | 18.7374 |
| 1990's | 21 (77.78) | 18.2507 |
| 2000's | 3 (11.11) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 1 (3.70) | 2.80 |
| Authors | Studies |
|---|---|
| Braverman, NE; Gavrilov, DK; Loken, PR; Matern, D; Oglesbee, D; Raymond, KM; Stoway, SD; Tortorelli, S; Wegwerth, PJ; White, AL | 1 |
| Barth, PG; Dekker, C; Gootjes, J; Mooijer, PA; Poll-The, BT; Wanders, RJ; Waterham, HR | 1 |
| Horibe, R; Kondo, N; Shimozawa, N; Suzuki, Y; Takemoto, Y; Wanders, RJ | 1 |
| Aubourg, P; Kremser, K; Rocchiccioli, F; Roland, MO; Singh, I | 1 |
| Applegarth, D; Vallance, H | 1 |
| Conzelmann, E; Fingerhut, R; Schmitz, W | 1 |
| Jakobs, C; Schor, DS; ten Brink, HJ; van Roermund, CW; Wanders, RJ | 2 |
| Molzer, B; Schmitt, K; Stöckler, S; Tulzer, G; Tulzer, W | 1 |
| Eyssen, HJ; Huang, S; Mannaerts, GP; Van Veldhoven, PP | 1 |
| Molzer, B | 1 |
| McGuinness, MC; Moser, AB; Poll-The, BT; Watkins, PA | 1 |
| Dhaunsi, GS; Lazo, O; Ozand, P; Pahan, K; Singh, I | 1 |
| Crane, DI; Paton, BC; Poulos, A; Sharp, PC | 1 |
| Björkhem, I; Kase, BF | 1 |
| Denis, S; Jakobs, C; Jansen, GA; Mihalik, SJ; Moser, HW; Wanders, RJ; Watkins, PA | 1 |
| Christensen, E; Jakobs, C; Leth, H; Pedersen, SA; Schutgens, RB; Wanders, RJ | 1 |
| Jakobs, C; Jansen, GA; Schor, DS; Verhoeven, NM; Wanders, RJ | 1 |
| Jakobs, C; Kok, RM; Roe, CR; Roe, DS; Verhoeven, NM; Wanders, RJ | 1 |
| Dennis, N; Elçioglu, N; Fensom, AH; Mohammed, SN; Sankaralingam, A; Slade, CM; Steinberg, SJ | 1 |
| Denis, S; Jakobs, C; Jansen, GA; Verhoeven, NM; Wanders, RJ | 1 |
| Demaugre, F; Poll-The, BT; Saudubray, JM; Skjeldal, OH; Stokke, O | 1 |
| Jakobs, C; ten Brink, HJ; van Roermund, CW; Wanders, RJ | 1 |
| Kamoshita, S | 1 |
| Kaczmarski, F; Kaluza, J; Klimek, M; Pietrzyk, JJ; Turowska-Heydel, D | 1 |
| Demaugre, F; Poll-The, BT; Poulos, A; Saudubray, JM; Skjeldal, OH; Stokke, O | 1 |
| Bernheimer, H; Kainz-Korschinsky, M; Molzer, B; Sundt-Heller, R | 1 |
3 review(s) available for phytanic acid and Zellweger Syndrome
| 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 |
Diagnosis of peroxisomal disorders with neurological involvement.
Topics: Adrenoleukodystrophy; Fatty Acids; Humans; Infant, Newborn; Metabolism, Inborn Errors; Microbodies; Nervous System Diseases; Phytanic Acid; Zellweger Syndrome | 1993 |
[Peroxisomal disorders; newer concept and recent studies].
Topics: Adrenoleukodystrophy; Bile Acids and Salts; Diffuse Cerebral Sclerosis of Schilder; Humans; Microbodies; Phytanic Acid; Pipecolic Acids; Plasmalogens; Zellweger Syndrome | 1990 |
24 other study(ies) available for phytanic acid and Zellweger Syndrome
| Article | Year |
|---|---|
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 |
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.
Topics: Acatalasia; Amino Acid Sequence; Cells, Cultured; Diagnosis, Differential; Fatty Acids; Female; Fibroblasts; Hereditary Sensory and Motor Neuropathy; Humans; Infant, Newborn; Intracellular Membranes; Liver; Microbodies; Molecular Sequence Data; Oxidation-Reduction; Phytanic Acid; Plasmalogens; Refsum Disease; Zellweger Syndrome | 1993 |
An improved method for quantification of very long chain fatty acids in plasma.
Topics: Adrenoleukodystrophy; Adult; Chondrodysplasia Punctata; Fatty Acids; Female; Gas Chromatography-Mass Spectrometry; Humans; Male; Microbodies; Molecular Weight; Phytanic Acid; Reference Standards; Reference Values; Refsum Disease; Reproducibility of Results; Zellweger Syndrome | 1994 |
Accumulation of phytanic acid alpha-oxidation intermediates in Zellweger fibroblasts.
Topics: Cells, Cultured; Chromatography, Gas; Fibroblasts; Humans; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Zellweger Syndrome | 1993 |
Phytanic acid oxidation in man: identification of a new enzyme catalysing the formation of 2-ketophytanic acid from 2-hydroxyphytanic acid and its deficiency in the Zellweger syndrome.
Topics: Humans; Keto Acids; Liver; Microbodies; Oxidation-Reduction; Oxidoreductases; Phytanic Acid; Zellweger Syndrome | 1995 |
[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 |
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome.
Topics: Alcohol Oxidoreductases; Animals; Humans; Liver; Male; Microbodies; Oxidation-Reduction; Phytanic Acid; Rats; Rats, Wistar; Zellweger Syndrome | 1994 |
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Adrenoleukodystrophy; Cell Line; Enoyl-CoA Hydratase; Fatty Acids; Humans; Immunoblotting; Microbodies; Oxidation-Reduction; Phytanic Acid; Zellweger Syndrome | 1993 |
Phytanic acid alpha-oxidation. Differential subcellular localization in rat and human tissues and its inhibition by nycodenz.
Topics: Adrenoleukodystrophy; Animals; Cell Fractionation; Cells, Cultured; Centrifugation, Density Gradient; Chlorides; Chondrodysplasia Punctata; Epoxy Compounds; Fatty Acids; Ferric Compounds; Fibroblasts; Humans; Hypoglycemic Agents; Iohexol; Kinetics; Liver; Microbodies; Mitochondria; Organelles; Oxidation-Reduction; Palmitic Acid; Palmitic Acids; Phytanic Acid; Rats; Rats, Sprague-Dawley; Skin; Subcellular Fractions; Zellweger Syndrome | 1993 |
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 |
Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders.
Topics: Cells, Cultured; Child; Fatty Acids; Fibroblasts; Humans; Microbodies; Phytanic Acid; Tritium; Zellweger Syndrome | 1996 |
Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.
Topics: Cell Compartmentation; Humans; Liver; Microbodies; Mixed Function Oxygenases; Models, Biological; Oxidation-Reduction; Phytanic Acid; Zellweger Syndrome | 1996 |
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.
Topics: Diseases in Twins; Fatty Acids; Humans; Infant, Newborn; Male; Microbodies; Oxidation-Reduction; Phytanic Acid; Zellweger Syndrome | 1997 |
Phytanic acid alpha-oxidation: decarboxylation of 2-hydroxyphytanoyl-CoA to pristanic acid in human liver.
Topics: Biomarkers; Cell Fractionation; Coenzyme A; Decarboxylation; Fatty Acids; Humans; Liver; Microbodies; Microsomes; NAD; Phytanic Acid; Zellweger Syndrome | 1997 |
Phytanic acid and pristanic acid are oxidized by sequential peroxisomal and mitochondrial reactions in cultured fibroblasts.
Topics: Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Cells, Cultured; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Mass Spectrometry; Microbodies; Mitochondria; Oxidation-Reduction; Phytanic Acid; Zellweger Syndrome | 1998 |
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 |
Phytanic acid alpha-oxidation in man: identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome.
Topics: Carbon-Carbon Lyases; Humans; Liver; Male; Oxidation-Reduction; Peroxisomes; Phytanic Acid; Zellweger Syndrome | 2000 |
Complementation analysis of peroxisomal disorders and classical Refsum.
Topics: Adrenoleukodystrophy; Cells, Cultured; Diffuse Cerebral Sclerosis of Schilder; Fibroblasts; Genetic Complementation Test; Humans; Infant; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome | 1990 |
Identification of pristanoyl-CoA oxidase and phytanic acid decarboxylation in peroxisomes and mitochondria from human liver: implications for Zellweger syndrome.
Topics: Centrifugation, Density Gradient; Decarboxylation; Humans; Microbodies; Mitochondria, Liver; Oxidoreductases; Phytanic Acid; Zellweger Syndrome | 1991 |
Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.
Topics: Diagnosis, Differential; Fatty Acids; Female; Fibroblasts; Humans; Infant; Male; Metabolism, Inborn Errors; Microbodies; Phenotype; Phytanic Acid; Zellweger Syndrome | 1990 |
Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.
Topics: Adrenoleukodystrophy; Cells, Cultured; Chondrodysplasia Punctata; Eicosanoic Acids; Fibroblasts; Genetic Complementation Test; Humans; Microbodies; Oxidation-Reduction; Phytanic Acid; Refsum Disease; Zellweger Syndrome | 1989 |
Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders.
Topics: Adrenal Glands; Adrenoleukodystrophy; Brain; Cholesterol Esters; Eicosanoic Acids; Fatty Acids; Humans; Kidney; Lipid Metabolism, Inborn Errors; Microbodies; Phytanic Acid; Refsum Disease; Zellweger Syndrome | 1989 |