Molecular basis and clinical management of Pompe disease

Molecular basis and clinical management of Pompe disease

Pompe disease (glycogenosis type II) is a rare autosomal recessive lysosomal storage disorder due to mutations of the <em>GAA</em> gene, leading to the deficiency of acid &alpha;-glucosidase and consequent glycogen storage in various tissues, mainly in the skeletal muscle, heart and...

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Bibliographic Details
Main Authors: Giancarlo Parenti, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, Generoso Andria
Format: Article
Language:English
Published: MDPI AG 2013-02-01
Series:Cardiogenetics
Subjects:
Pompe disease, glycogen storage disease type II, acid a-glucosidase, acid maltase, metabolic myopathy.
Online Access:http://www.pagepressjournals.org/index.php/cardiogen/article/view/905

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http://www.pagepressjournals.org/index.php/cardiogen/article/view/905

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