title: Glycosphingolipids in patients with the Rett syndrome.
abstract: We have pursued two blind studies on the plasma glycosphingolipids in patients with the Rett syndrome (RS), other disorders and normal individuals from Baltimore, USA, Vienna, Austria, and Rostock, East Germany. We found the presence of an unusual glycosphingolipid in 70% of patients with RS. Approximately 10% of the plasma from patients with other developmental disorders also contained this glycosphingolipid. However, this glycosphingolipid was absent from the plasma of normal individuals and lipid storage disorders. Further work in this area will be necessary to associate the relevance of this finding to RS.
authors.affiliation: Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland.
authors.forename: S
authors.initials: S
authors.lastname: Chatterjee
authors.forename: N
authors.initials: N
authors.lastname: Ghosh
authors.forename: K M
authors.initials: KM
authors.lastname: Goh
authors.forename: E
authors.initials: E
authors.lastname: Rohmann
authors.forename: W
authors.initials: W
authors.lastname: Killian
authors.forename: A
authors.initials: A
authors.lastname: Rett
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006028:Glycosphingolipids / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015518:Rett Syndrome / Q000097:blood*
chemical_list: D006028:Glycosphingolipids