title: Specific enzymatic diagnosis and ultrastructural analysis of peripheral leukocytes in infantile form of Niemann-Pick sphingomyelinosis.
abstract: Acute infantile type of Niemann-Pick sphingomyelin lipidosis has been published concentrating to the morphological and biochemical specific enzyme investigations. The electronmicroscopical study of the peripheral lymphocytes proved to be of diagnostic value for lysosomal lipidoses.
authors.affiliation: Paediatric Department, Szent-Györgyi Medical University Szeged, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: László
authors.forename: L
authors.initials: L
authors.lastname: Klujber
authors.forename: K
authors.initials: K
authors.lastname: Streitmann
authors.forename: E
authors.initials: E
authors.lastname: Barb
mesh_terms: D000208:Acute Disease; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000032:analysis*; D008055:Lipids / Q000032:analysis; D008214:Lymphocytes / Q000032:analysis / Q000201:enzymology / Q000648:ultrastructure*; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
chemical_list: D007527:Isoenzymes; D008055:Lipids; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase