phytanic acid has been researched along with Chondrodysplasia Punctata in 13 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 4 (30.77) | 18.7374 |
| 1990's | 9 (69.23) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Applegarth, D; Vallance, H | 1 |
| Dekker, C; Hovarth, VA; Lecoutere, D; Schutgens, RB; Tager, JM; Van Laer, P; Wanders, RJ | 1 |
| Dhaunsi, GS; Lazo, O; Ozand, P; Pahan, K; Singh, I | 1 |
| Jakobs, C; Kneer, J; Kok, RM; Poll-The, BT; Saudubray, JM; Schor, DS; Stellaard, F; ten Brink, HJ | 1 |
| Chapman, S; Gray, RG; Green, A; McKeown, C; Schutgens, RB; Wanders, RJ | 1 |
| Beemer, FA; Donckerwolcke, RA; Dorland, L; Duran, M; Espeel, M; Jakobs, C; Roels, F; Schutgens, RB; Smeitink, JA; Wanders, RJ | 1 |
| Heikoop, JC; Purvis, R; Schutgens, RB; Strijland, A; Tager, JM; Wanders, RJ | 1 |
| Guesnu, M; Maroteaux, P; Narcy, C; Poll-The, BT; Quetin, P; Saudubray, JM; Schutgens, RB; Wanders, RJ | 1 |
| Lenti, C; Paganoni, P; Sangermani, R | 1 |
| Baldwin, V; Charrow, J; Chen, WW; Friedman, JM; Hoefler, G; Hoefler, S; McGillivary, B; Moser, A; Rutledge, L; Watkins, PA | 1 |
| Fellenberg, AJ; Johnson, DW; Poulos, A; Sharp, P | 1 |
| Demaugre, F; Poll-The, BT; Poulos, A; Saudubray, JM; Skjeldal, OH; Stokke, O | 1 |
| Chen, WW; Hoefler, G; Hoefler, S; Moser, AB; Moser, HW; Watkins, PA | 1 |
13 other study(ies) available for phytanic acid and Chondrodysplasia Punctata
| Article | Year |
|---|---|
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 |
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder.
Topics: Alkyl and Aryl Transferases; Chondrodysplasia Punctata; Fibroblasts; Humans; Immunoblotting; Infant, Newborn; Male; Microbodies; Phytanic Acid; Transferases | 1994 |
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 |
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 |
Rhizomelic chondrodysplasia punctata--a new clinical variant.
Topics: Acyltransferases; Blood Platelets; Calcinosis; Chondrodysplasia Punctata; Erythrocytes; Female; Fibroblasts; Humans; Infant, Newborn; Limb Deformities, Congenital; Phytanic Acid; Plasmalogens | 1992 |
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresis.
Topics: Chondrodysplasia Punctata; Female; Humans; Infant; Liver; Metabolism, Inborn Errors; Microbodies; Microscopy, Electron; Phytanic Acid; Plasmalogens; Plasmapheresis | 1992 |
Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata--a complementation study.
Topics: Acetyl-CoA C-Acyltransferase; Acyltransferases; Alkyl and Aryl Transferases; Cell Fusion; Cell Line; Chondrodysplasia Punctata; Genetic Complementation Test; Humans; Immunoblotting; Microscopy, Fluorescence; Phytanic Acid; Plasmalogens; Transferases | 1992 |
A new type of chondrodysplasia punctata associated with peroxisomal dysfunction.
Topics: Acyltransferases; Catalase; Chondrodysplasia Punctata; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Microbodies; Oxidation-Reduction; Phytanic Acid; Skin | 1991 |
Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth.
Topics: Brain; Chondrodysplasia Punctata; Electroencephalography; Fatty Acids; Humans; Magnetic Resonance Imaging; Male; Phytanic Acid; Plasmalogens; Tomography, X-Ray Computed | 1991 |
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
Topics: Acetyl-CoA C-Acyltransferase; Adrenoleukodystrophy; Chondrodysplasia Punctata; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Liver; Male; Microbodies; Phytanic Acid; Plasmalogens; Refsum Disease | 1988 |
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 |
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 |
Prenatal diagnosis of rhizomelic chondrodysplasia punctata.
Topics: Amniocentesis; Chondrodysplasia Punctata; Chorionic Villi; Fatty Acids; Female; Fetal Diseases; Humans; Oxidation-Reduction; Phytanic Acid; Plasmalogens; Pregnancy; Prenatal Diagnosis | 1988 |