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Detection of Infantile Batten Disease by Tandem Mass Spectrometry Assay of PPT1 Enzyme Activity in Dried Blood Spots

A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots (DBS) is presented. Deficiency in this enzyme leads to infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease, CLN1). The...

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Bibliografische gegevens
Gepubliceerd in:Anal Chem
Hoofdauteurs: Khaledi, Hamid, Liu, Yang, Masi, Sophia, Gelb, Michael H.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2018
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6423508/
https://ncbi.nlm.nih.gov/pubmed/30204428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1021/acs.analchem.8b03188
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