title: Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry.
authors.affiliation: Departments of Chemistry.
authors.forename: Farideh
authors.initials: F
authors.lastname: Ghomashchi
authors.affiliation: Departments of Chemistry.
authors.forename: Mariana
authors.initials: M
authors.lastname: Barcenas
authors.affiliation: Departments of Chemistry.
authors.forename: Frantisek
authors.initials: F
authors.lastname: Turecek
authors.affiliation: Pediatrics, and.
authors.forename: C Ronald
authors.initials: CR
authors.lastname: Scott
authors.affiliation: Departments of Chemistry, Biochemistry University of Washington Seattle, WA gelb@chem.washington.edu.
authors.forename: Michael H
authors.initials: MH
authors.lastname: Gelb
mesh_terms: D006801:Humans; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000235:genetics; D015203:Reproducibility of Results; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency* / Q000235:genetics; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D013108:Sphingomyelin Phosphodiesterase