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Lymphocyte Galactocerebrosidase Activity by Liquid Chromatography-Tandem Mass Spectrometry for Post-Newborn Screening Evaluation of Krabbe Disease
BACKGROUND: Deficiency of the lysosomal enzyme galactosylcerebrosidase (GALC) causes Krabbe disease. Newborn screening for Krabbe disease is ongoing, but improved methods for follow-up analysis of screen-positive babies are needed to better advise families and to optimize treatment. We report a new...
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| Publicado no: | Clin Chem |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5533636/ https://ncbi.nlm.nih.gov/pubmed/28592445 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1373/clinchem.2016.264952 |
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