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Ağır Hipertrofik Kardiyomiyopati ile Kendini Gösteren İnfantil Pompe Hastalığı: Olgu Sunumu
2015
Journal:  
Haseki Tıp Bülteni
Author:  
Abstract:

Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography.

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Haseki Tıp Bülteni

Field :   Sağlık Bilimleri

Journal Type :   Uluslararası

Metrics
Article : 847
Cite : 376
Haseki Tıp Bülteni