A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

Tong Zhang,Phi Duong,Remwilyn Dayuha,Christopher J Collins,Erika Beckman,Jenny Thies,Irene Chang,Christina Lam,Angela Sun,Anna I Scott,John Thompson, Aranjeet Singh,Hamid Khaledi,Michael H Gelb,Si Houn Hahn

Molecular Genetics and Metabolism（2022）

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摘要

Direct quantification of endogenous GAA and IDUA peptides in DBS by Immuno-SRM can be used for second-tier screening to rapidly identify severe PD and MPS I patients with a turnaround time of <1 week. Such patients could benefit from immediate clinical follow up and possibly earlier treatment.

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关键词

Proteomic analysis,Pompe disease,Hurler syndrome,Mucopolysaccharidosis type I,Buccal swab,DBS

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