choline has been researched along with Zellweger Syndrome in 2 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.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (50.00) | 18.2507 |
2000's | 1 (50.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Logan, HE | 1 |
Byers, DM | 1 |
Ridgway, ND | 1 |
Cook, HW | 1 |
Groenendaal, F | 1 |
Bianchi, MC | 1 |
Battini, R | 1 |
Tosetti, M | 1 |
Boldrini, A | 1 |
de Vries, LS | 1 |
Cioni, G | 1 |
2 other studies available for choline and Zellweger Syndrome
Article | Year |
---|---|
Phospholipase D activity is altered in X-linked adrenoleukodystrophy heterozygous carriers, but not in hemizygous patients.
Topics: Carrier State; Cells, Cultured; Choline; Enzyme Activation; Female; Fibroblasts; Genetic Linkage; Hu | 1998 |
Proton magnetic resonance spectroscopy (1H-MRS) of the cerebrum in two young infants with Zellweger syndrome.
Topics: Aspartic Acid; Brain; Choline; Creatine; Diagnosis, Differential; Dominance, Cerebral; Energy Metabo | 2001 |