Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening

BACKGROUND: Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann–Pick A/B, and Pompe diseases is warranted because treatment for these syndromes is now available or anticipated in the near feature. We describe a multiplex screening method for all five...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Li, Yijun, Scott, C. Ronald, Chamoles, Nestor A., Ghavami, Ahmad, Pinto, B. Mario, Turecek, Frantisek, Gelb, Michael H.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2004
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428798/
https://ncbi.nlm.nih.gov/pubmed/15292070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2004.035907
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky