carnitine has been researched along with Adrenoleukodystrophy, Autosomal Neonatal Form in 7 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) |
| "The alpha-oxidation of phytanic acid and the beta-oxidation of pristanitc acid were investigated in cultured fibroblasts from controls and patients affected with different peroxisomal disorders using deuterated substrates." | 3.70 | Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis. ( Jakobs, C; Roe, CR; ten Brink, HJ; Verhoeven, NM; Wanders, RJ, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (14.29) | 18.2507 |
| 2000's | 4 (57.14) | 29.6817 |
| 2010's | 2 (28.57) | 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 | 2 |
| Ferdinandusse, S | 2 |
| Duranti, G | 1 |
| Boenzi, S | 2 |
| Rizzo, C | 2 |
| Ravà, L | 1 |
| Di Ciommo, V | 1 |
| Carrozzo, R | 1 |
| Meschini, MC | 1 |
| Johnson, DW | 1 |
| Dionisi-Vici, C | 2 |
| Sandlers, Y | 1 |
| Moser, AB | 1 |
| Hubbard, WC | 1 |
| Kratz, LE | 1 |
| Jones, RO | 1 |
| Raymond, GV | 1 |
| Wanders, RJ | 3 |
| Duran, M | 1 |
| Caruso, U | 1 |
| Verhoeven, NM | 1 |
| Jakobs, C | 1 |
| ten Brink, HJ | 1 |
| Roe, CR | 1 |
| Vreken, P | 1 |
| Jansen, GA | 1 |
| van Roermund, CW | 1 |
| Van Grunsven, EG | 1 |
| Carpenter, KH | 1 |
| Wiley, V | 1 |
2 reviews available for carnitine and Adrenoleukodystrophy, Autosomal Neonatal Form
| Article | Year |
|---|---|
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases.
Topics: Adenosine Triphosphate; Animals; Biological Transport; Carbon Dioxide; Carnitine; Carnitine O-Palmit | 2001 |
Application of tandem mass spectrometry to biochemical genetics and newborn screening.
Topics: Amino Acids; Carnitine; Genetic Testing; Humans; Infant, Newborn; Molecular Biology; Neonatal Screen | 2002 |
5 other studies available for carnitine and Adrenoleukodystrophy, Autosomal Neonatal Form
| 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 |
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Topics: Adrenoleukodystrophy; Carnitine; Chromatography, Liquid; Dried Blood Spot Testing; Humans; Infant, N | 2012 |
Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry.
Topics: Carnitine; Gas Chromatography-Mass Spectrometry; Humans; Mass Spectrometry; Peroxisomal Disorders; P | 2003 |
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 Disor | 1998 |