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...
Shranjeno v:
| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2013
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| 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: |
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