Detection of Mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in Dried Blood Spots (DBS) by Tandem Mass Spectrometry

BACKGROUND: With ongoing efforts to develop improved treatments for Sanfilippo Syndrome Type A (MPS-IIIA), a disease caused by the inability to degrade heparan sulfate in lysosomes, we sought to develop an enzymatic activity assay for the relevant enzyme, sulfamidase, that uses dried blood spots (DB...

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Publicado no:Mol Genet Metab
Main Authors: Yi, Fan, Hong, Xinying, Kumar, Arun Babu, Zong, Chengli, Boons, Geert-Jan, Scott, C. Ronald, Turecek, Frantisek, Robinson, Bruce H., Gelb, Michael H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175634/
https://ncbi.nlm.nih.gov/pubmed/30006231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.05.005
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