Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry

Clin Chem. 2015 May;61(5):771-2. doi: 10.1373/clinchem.2014.236448. Epub 2015 Mar 13.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Mutation*
  • Niemann-Pick Diseases / enzymology*
  • Niemann-Pick Diseases / genetics
  • Reproducibility of Results
  • Sphingomyelin Phosphodiesterase / deficiency*
  • Sphingomyelin Phosphodiesterase / genetics
  • Tandem Mass Spectrometry / methods*

Substances

  • Sphingomyelin Phosphodiesterase