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Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP). We sought to consolidate these tests by combining them into a single multiplex tandem mass spectrometry assay as well as...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5976550/ https://ncbi.nlm.nih.gov/pubmed/29680633 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.03.012 |
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