Tapetoretinal degeneration in the cerebro-hepato-renal (Zellweger's) syndrome.
AUTOR(ES)
Garner, A.
RESUMO
Electrophysiological and histopathological study of a baby suffering from Zellweger's syndrome and presenting progressive retinal dysfunction showed this to be related to degenerative changes in the photoreceptor cells and pigment epithelium and to defective myelination of the optic nerve. Disturbances of bile acid and lysine metabolism were also demonstrated, lending support to the concept that Zellweger's syndrome is attributable to a widespread inadequacy of intracellular oxidative function.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1039816Documentos Relacionados
- Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy.
- Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.
- Peroxisomal organization in normal and cerebrohepatorenal (Zellweger) syndrome fibroblasts.
- Oculo-cerebro-renal syndrome. Report of a case in a baby girl.
- Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.