Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots

Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen for Pompe disease, but a paradigm shift has been observed in recent years with the incorporation of gene panels and exome sequencing in molecular diagnostic laboratories. An 89-gene panel has been avail...

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Detalles Bibliográficos
Autores principales: Thuriot, Fanny, Gravel, Elaine, Hodson, Katherine, Ganopolsky, Jorge, Rakic, Bojana, Waters, Paula J., Gravel, Serge, Lévesque, Sébastien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432085/
https://www.ncbi.nlm.nih.gov/pubmed/34501319
http://dx.doi.org/10.3390/jcm10173868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432085/
https://www.ncbi.nlm.nih.gov/pubmed/34501319
http://dx.doi.org/10.3390/jcm10173868

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