carnitine has been researched along with Zellweger Syndrome in 6 studies
Zellweger Syndrome: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Due to the importance of L-carnitine in intermediary metabolism we studied the effects of L-carnitine on healthy human skin fibroblasts and fibroblasts without functional peroxisomes (Zellweger Syndrome) cultivated under carnitine deficiency, which is caused by standard media compositions." | 3.72 | L-Carnitine alters nitric oxide synthase activity in fibroblasts depending on the peroxisomal status. ( Koeck, T; Kremser, K, 2003) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 2 (33.33) | 18.2507 |
| 2000's | 3 (50.00) | 29.6817 |
| 2010's | 1 (16.67) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Klouwer, FCC | 1 |
| Ferdinandusse, S | 1 |
| van Lenthe, H | 1 |
| Kulik, W | 1 |
| Wanders, RJA | 1 |
| Poll-The, BT | 1 |
| Waterham, HR | 1 |
| Vaz, FM | 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 |
| Koeck, T | 1 |
| Kremser, K | 1 |
| Chegary, M | 1 |
| Te Brinke, H | 1 |
| Doolaard, M | 1 |
| Ijlst, L | 1 |
| Wijburg, FA | 1 |
| Wanders, RJ | 1 |
| Houten, SM | 1 |
| Shimizu, N | 1 |
| Yamaguchi, S | 1 |
| Orii, T | 1 |
| Johnson, AW | 1 |
| Mills, K | 1 |
| Clayton, PT | 1 |
6 other studies available for carnitine and Zellweger Syndrome
| Article | Year |
|---|---|
Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers; Carnitine; Case-Control Studies; Child; Chil | 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 |
L-Carnitine alters nitric oxide synthase activity in fibroblasts depending on the peroxisomal status.
Topics: Acetylcysteine; Animals; Antioxidants; Carnitine; Cattle; Cells, Cultured; Fatty Acids; Fibroblasts; | 2003 |
Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase, Long-Chain; | 2008 |
A study of urinary metabolites in patients with dicarboxylic aciduria for differential diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Diagnosis, Differential; Dicarbox | 1994 |
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots.
Topics: Biliary Atresia; Carnitine; Child; Fatty Acid Desaturases; Humans; Infant, Newborn; Maple Syrup Urin | 1996 |