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

PURPOSE: Current newborn screening programs for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) suffer from a high false positive rate and long turnaround time for clinical follow up. This study aimed to develop a novel proteomics-based assay for rapid and accurate second-tier screening...

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Detalles Bibliográficos
Autores principales:	Zhang, Tong, Duong, Phi, Dayuha, Remwilyn, Collins, Christopher J., Beckman, Erika, Thies, Jenny, Chang, Irene, Lam, Christina, Sun, Angela, Scott, Anna I., Thompson, John, Singh, Aranjeet, Khaledi, Hamid, Gelb, Michael H., Hahn, Si Houn
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387444/ https://www.ncbi.nlm.nih.gov/pubmed/35787971 http://dx.doi.org/10.1016/j.ymgme.2022.06.006

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