Nalaganje...

Identification of infants at risk for developing Fabry, Pompe or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

OBJECTIVE: To assess the performance of a tandem mass spectrometry technology in a newborn screening laboratory to simultaneously measure α-galactosidase, acid-α-glucosidase, and α-L-iduronidase for the detection of infants at risk to develop Fabry, Pompe, or Mucopolysaccharidosis-I (MPS-I) diseases...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Scott, C. Ronald, Elliott, Susan, Buroker, Norman, Thomas, Lauren I, Keutzer, Joan, Glass, Michael, Gelb, Michael H., Turecek, Frantisek
Format: Artigo
Jezik:Inglês
Izdano: 2013
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3725184/
https://ncbi.nlm.nih.gov/pubmed/23465405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2013.01.031
Oznake: Označite
Brez oznak, prvi označite!