Caricamento...

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

We report a new assay of N-acetylgalactosamine-4-sulfatase (aryl sulfatase B) activity in dried blood spots (DBS) for the early detection of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) in newborn screening. The assay uses a synthetic substrate consisting of N-acetylgalactosamine-4-sulfate moi...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Duffey, Trisha A., Sadilek, Martin, Scott, C. Ronald, Turecek, Frantisek, Gelb, Michael H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2980560/
https://ncbi.nlm.nih.gov/pubmed/20961069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/ac102090v
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !