phytanic acid has been researched along with Chondrodysplasia Punctata, Rhizomelic in 9 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 4 (44.44) | 18.2507 |
| 2000's | 2 (22.22) | 29.6817 |
| 2010's | 2 (22.22) | 24.3611 |
| 2020's | 1 (11.11) | 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 |
| Braverman, NE; Çim, A; Coşkun, S; Görükmez, O; Pietro, ED; Plourde, F; Uluca, Ü; Yüksel, H | 1 |
| Braverman, N; Chaudhury, R; Chen, L; Moser, A; Nimmo, G; Scheper, S; Steinberg, S; Tran, T; Zhang, R | 1 |
| Baes, M; Brites, P; Carmeliet, P; Dewerchin, M; Duran, M; Everts, V; Evrard, P; Gressens, P; Mooyer, PA; Motley, AM; Ploegaert, I; Schoonjans, L; Wanders, RJ; Waterham, HR | 1 |
| van den Brink, DM; Wanders, RJ | 1 |
| Khan, M; Pahan, K; Singh, I | 1 |
| Barth, PG; Schutgens, RB; Staalman, CR; Wanders, RJ | 1 |
| Lima, MR; Mota, CR; Nogueira, A; Vilarinho, A | 1 |
| Kenjarski, TP; Moser, AB; Moser, HW; Powers, JM | 1 |
2 review(s) available for phytanic acid and Chondrodysplasia Punctata, Rhizomelic
| 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 |
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 |
7 other study(ies) available for phytanic acid and Chondrodysplasia Punctata, Rhizomelic
| Article | Year |
|---|---|
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Topics: Child; Chondrodysplasia Punctata, Rhizomelic; Female; Gas Chromatography-Mass Spectrometry; Heterozygote; Homozygote; Humans; Male; Mutation; Pedigree; Peroxisomal Targeting Signal 2 Receptor; Phytanic Acid; Polymerase Chain Reaction; Receptors, Cytoplasmic and Nuclear | 2015 |
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
Topics: Animals; Bone and Bones; Cells, Cultured; Chondrodysplasia Punctata, Rhizomelic; Dietary Supplements; Disease Models, Animal; Glyceryl Ethers; Lens, Crystalline; Mice; Mice, Inbred C57BL; Mice, Transgenic; Peroxisomal Targeting Signal 2 Receptor; Peroxisomes; Phenotype; Phytanic Acid; Plasmalogens; Receptors, Cytoplasmic and Nuclear; Tissue Distribution | 2010 |
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.
Topics: Acetyl-CoA C-Acetyltransferase; Animals; Animals, Newborn; Brain; Cell Movement; Cells, Cultured; Chondrodysplasia Punctata, Rhizomelic; Diet; Fibroblasts; Gene Targeting; Liver; Mice; Mice, Knockout; Mutation; Neurons; Osteoblasts; Osteoclasts; Osteogenesis; Oxidation-Reduction; Peroxisomal Targeting Signal 2 Receptor; Peroxisomes; Phytanic Acid; Phytol; Plasmalogens; Receptors, Cytoplasmic and Nuclear; Time Factors | 2003 |
Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata.
Topics: Biological Transport; Cells, Cultured; Chondrodysplasia Punctata, Rhizomelic; Coenzyme A; Fibroblasts; Humans; Hydroxylation; Microbodies; Oxidation-Reduction; Phytanic Acid; Reference Values; Refsum Disease | 1996 |
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies.
Topics: Cells, Cultured; Child; Chondrodysplasia Punctata, Rhizomelic; Female; Fibroblasts; Humans; Intellectual Disability; Phytanic Acid | 1996 |
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.
Topics: Acyltransferases; Chondrodysplasia Punctata, Rhizomelic; Dihydroxyacetone Phosphate; Dwarfism; Fatal Outcome; Fatty Acids; Humans; Infant, Newborn; Male; Phenotype; Phytanic Acid; Plasmalogens; Radiography; Respiratory Insufficiency | 1997 |
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells.
Topics: Atrophy; Calcium; Cell Death; Cerebellum; Child; Chondrodysplasia Punctata, Rhizomelic; Chronic Disease; Female; Humans; Infant; Male; Phytanic Acid; Purkinje Cells | 1999 |