Page last updated: 2024-10-16

choline and Zellweger Syndrome

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.

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Logan, HE1
Byers, DM1
Ridgway, ND1
Cook, HW1
Groenendaal, F1
Bianchi, MC1
Battini, R1
Tosetti, M1
Boldrini, A1
de Vries, LS1
Cioni, G1

Other Studies

2 other studies available for choline and Zellweger Syndrome

ArticleYear
Phospholipase D activity is altered in X-linked adrenoleukodystrophy heterozygous carriers, but not in hemizygous patients.
    Biochimica et biophysica acta, 1998, Jul-01, Volume: 1407, Issue:1

    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.
    Neuropediatrics, 2001, Volume: 32, Issue:1

    Topics: Aspartic Acid; Brain; Choline; Creatine; Diagnosis, Differential; Dominance, Cerebral; Energy Metabo

2001