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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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Detalhes bibliográficos
Publicado no:Clin Chem
Main Authors: Liao, Hsuan-Chieh, Spacil, Zdenek, Ghomashchi, Farideh, Escolar, Maria L., Kurtzberg, Joanne, Orsini, Joseph J., Turecek, Frantisek, Scott, C. Ronald, Gelb, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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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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