Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Purpose: The addition of Pompe disease (Glycogen Storage Disease Type II) to the Recommended Uniform Screening Panel in the United States has led to an increase in the number of variants of uncertain significance (VUS) and novel variants identified in the GAA gene. This presents a diagnostic challen...

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Detalles Bibliográficos
Autores principales: Goomber, Shelly, Huggins, Erin, Rehder, Catherine W., Cohen, Jennifer L., Bali, Deeksha S., Kishnani, Priya S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562992/
https://www.ncbi.nlm.nih.gov/pubmed/36246652
http://dx.doi.org/10.3389/fgene.2022.1001154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9562992/
https://www.ncbi.nlm.nih.gov/pubmed/36246652
http://dx.doi.org/10.3389/fgene.2022.1001154

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