Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA.
Khaliq
Tanvir
T
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
Sadilek
Martin
M
Scott
C Ronald
CR
Turecek
Frantisek
F
Gelb
Michael H
MH
D001800:Blood Specimen Collection; D002811:Chondroitinsulfatases / Q000097:blood*; D006801:Humans; D007231:Infant, Newborn; D008247:Lysosomes / Q000201:enzymology*; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000201:enzymology; D015997:Neonatal Screening / Q000379:methods*; D021241:Spectrometry, Mass, Electrospray Ionization; D013379:Substrate Specificity; D053719:Tandem Mass Spectrometry; D014468:Umbelliferones
D014468:Umbelliferones; D002811:Chondroitinsulfatases; C102295:GALNS protein, human