glycolic acid has been researched along with Zellweger Syndrome in 1 studies
glycolic acid: RN given refers to parent cpd
glycolic acid : A 2-hydroxy monocarboxylic acid that is acetic acid where the methyl group has been hydroxylated.
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 |
---|---|---|
"Its deficiency causes primary hyperoxaluria type 1 (PH1, MIM 259900), an inborn error of glyoxylate metabolism characterized by hyperoxaluria, nephrocalcinosis, and renal insufficiency." | 1.33 | High incidence of hyperoxaluria in generalized peroxisomal disorders. ( Barth, PG; Duran, M; Groothoff, JW; Poll-The, BT; van Woerden, CS; Wanders, RJ; Wijburg, FA, 2006) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (100.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
van Woerden, CS | 1 |
Groothoff, JW | 1 |
Wijburg, FA | 1 |
Duran, M | 1 |
Wanders, RJ | 1 |
Barth, PG | 1 |
Poll-The, BT | 1 |
1 other study available for glycolic acid and Zellweger Syndrome
Article | Year |
---|---|
High incidence of hyperoxaluria in generalized peroxisomal disorders.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Glycolates; Humans; Hyperoxaluria; Infant; Kidn | 2006 |