carnitine has been researched along with Adult Refsum Disease in 2 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5." | 7.85 | Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR, 2017) |
| "Phytanic acid is a branched-chain fatty acid, the level of which is elevated in patients with a variety of peroxisomal disorders, including Refsum disease, and Rhizomelic chondrodysplasia punctata type 1 and 5." | 3.85 | Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders. ( Ferdinandusse, S; Herzog, K; van Lenthe, H; Vaz, FM; Wanders, RJA; Waterham, HR, 2017) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Herzog, K | 1 |
| van Lenthe, H | 1 |
| Wanders, RJA | 1 |
| Vaz, FM | 1 |
| Waterham, HR | 1 |
| Ferdinandusse, S | 1 |
| Duranti, G | 1 |
| Boenzi, S | 1 |
| Rizzo, C | 1 |
| Ravà, L | 1 |
| Di Ciommo, V | 1 |
| Carrozzo, R | 1 |
| Meschini, MC | 1 |
| Johnson, DW | 1 |
| Dionisi-Vici, C | 1 |
2 other studies available for carnitine 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 Disord | 2017 |
Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.
Topics: Carnitine; Female; Humans; Infant; Infant, Newborn; Male; Peroxisomal Disorders; Refsum Disease; Rep | 2008 |