[Sphingolipidosis. Recent progress in biochemical diagnosis. New pathogenic approaches].
In an increasing number of biochemical variants of the sphingolipidoses, demonstration of the enzyme defect cannot be achieved by the (briefly summarized) conventional techniques. Alternative methods allowing diagnosis of such patients - in particular metabolic studies in living cell cultures - are discussed. The current knowledge and practical impact of molecular biology in the sphingolipidoses field is shortly reviewed. The authors finally discuss the recent findings highlighting in Niemann-Pick disease type C metabolic abnormalities in the cellular processing of cholesterol and their consequences on diagnosis and pathogenesis of this disorder.
D002478:Cells, Cultured; D006801:Humans; D008722:Methods; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000209:etiology; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000209:etiology
Les sphingolipidoses. Actualisation du diagnostic biochimique. Nouvelles approches pathogéniques.