Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease

Pompe disease is caused by the accumulation of glycogen in the lysosomes due to a deficiency of the lysosomal acid-α-glucosidase (GAA) enzyme. Depending on residual enzyme activity, the disease manifests two distinct phenotypes. In this study, we assess an enzymatic and genetic analysis of Hungarian...

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Bibliographic Details
Main Authors: Aniko Gal, Zoltán Grosz, Beata Borsos, Ildikó Szatmari, Agnes Sebők, Laszló Jávor, Veronika Harmath, Katalin Szakszon, Livia Dezsi, Eniko Balku, Zita Jobbagy, Agnes Herczegfalvi, Zsuzsanna Almássy, Levente Kerényi, Maria Judit Molnar
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Life
Subjects:
Pompe disease
GAA genotype
GAA enzyme activity
Online Access:https://www.mdpi.com/2075-1729/11/6/507

Internet

https://www.mdpi.com/2075-1729/11/6/507

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