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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Veröffentlicht in:	Journal of clinical medicine 2021-08, Vol.10 (17), p.3868
Hauptverfasser:	Thuriot, Fanny, Gravel, Elaine, Hodson, Katherine, Ganopolsky, Jorge, Rakic, Bojana, Waters, Paula J., Gravel, Serge, Lévesque, Sébastien
Format:	Artikel
Sprache:	eng
Schlagworte:	Acids Bioinformatics Clinical medicine Congenital diseases Enzymes Laboratories Medical screening Patients Software
Online-Zugang:	Volltext
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