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Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblast

The mucopolysaccharidoses (MPSs) are a class of inborn errors of metabolism caused by deficiency of each of the enzymes involved in the lysosomal degradation of mucopolysaccharides. Newborn screening panels worldwide have been recently expanded to include one or more MPS disorders as treatments are...

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Foilsithe in:Anal Chem
Main Authors: Khaledi, Hamid, Gelb, Michael H.
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2020
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8026088/
https://ncbi.nlm.nih.gov/pubmed/32786498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.analchem.0c01750
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