2-hydroxyphytanic acid and Zellweger Syndrome

2-hydroxyphytanic acid has been researched along with Zellweger Syndrome in 3 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. [MeSH]

Research

Studies (3)

Authors

Other Studies

3 other study(ies) available for 2-hydroxyphytanic acid and Zellweger Syndrome