Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Laszló Jávor"'
Autor:
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
Publikováno v:
Life, Vol 11, Iss 6, p 507 (2021)
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 as
Externí odkaz:
https://doaj.org/article/05410f1078d14baebc13795877169b6e
Autor:
Mária Judit Molnár, Katalin Visy Várdi, Zoltán Grosz, Levente Kerényi, Lívia Dézsi, Laszló Jávor, Zsuzsanna Almássy, Ágnes Sebők, Beata Borsos, Zita Jobbágy, Judit Bidló
Publikováno v:
Ideggyógyászati szemle. 73:151-159
Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically,
Autor:
Zita Jobbágy, Lívia Dézsi, Veronika Harmath, Agnes Herczegfalvi, Ildikó Szatmári, Anikó Gál, Beata Borsos, Zsuzsanna Almássy, Levente Kerényi, Zoltán Grosz, Katalin Szakszon, Eniko Balku, Mária Judit Molnár, Laszló Jávor, Ágnes Sebők
Publikováno v:
Life, Vol 11, Iss 507, p 507 (2021)
Life
Volume 11
Issue 6
Life
Volume 11
Issue 6
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 as