title: [Sphingomyelinase activity in a patient with Niemann-Pick disease].
abstract: In a few months old baby a visceromegaly was found, without other clinical abnormalities. Using an artificial substrate a deficiency of sphingomyelinase could not be demonstrated. Histopathological examination of biopsied liver revealed a lipid storage disease. Using the natural substrate the deficiency of sphingomyelinase could be demonstrated in leucocytes and in cultured fibroblasts.
authors.affiliation: St. Radboudziekenhuis, Nijmegen.
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: U J
authors.initials: UJ
authors.lastname: van Haelst
authors.forename: H L
authors.initials: HL
authors.lastname: Smeets
mesh_terms: D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000378:metabolism / Q000473:pathology*; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000378:metabolism*
chemical_list: D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase
vernacular_title: De activiteit van sfingomyelinase bij een patiënt met de ziekte van Niemann-Pick.