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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Detalles Bibliográficos
Autores principales: Gal, Aniko, Grosz, Zoltán, Borsos, Beata, Szatmari, Ildikó, Sebők, Agnes, Jávor, Laszló, Harmath, Veronika, Szakszon, Katalin, Dezsi, Livia, Balku, Eniko, Jobbagy, Zita, Herczegfalvi, Agnes, Almássy, Zsuzsanna, Kerényi, Levente, Molnar, Maria Judit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228169/
https://www.ncbi.nlm.nih.gov/pubmed/34072668
http://dx.doi.org/10.3390/life11060507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228169/
https://www.ncbi.nlm.nih.gov/pubmed/34072668
http://dx.doi.org/10.3390/life11060507

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