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

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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Bibliographic Details
Main Authors: Fanny Thuriot, Elaine Gravel, Katherine Hodson, Jorge Ganopolsky, Bojana Rakic, Paula J. Waters, Serge Gravel, Sébastien Lévesque
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Journal of Clinical Medicine
Subjects:
Pompe disease
gene panel sequencing
alpha-glucosidase
GAA
dried-blood spots
Online Access:https://www.mdpi.com/2077-0383/10/17/3868

Internet

https://www.mdpi.com/2077-0383/10/17/3868

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