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...

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Detalhes bibliográficos
Main Authors: Scott, C. Ronald, Elliott, Susan, Buroker, Norman, Thomas, Lauren I, Keutzer, Joan, Glass, Michael, Gelb, Michael H., Turecek, Frantisek
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha: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
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