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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease glycogen storage disease ii
Symptom C0878544|cardiomyopathy
Sentences 4
PubMedID- 25213570 Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
PubMedID- 22572506 We are presenting two cases of infantile form of pompe's disease with secondary hypertrophic cardiomyopathy (cmp).
PubMedID- 21940687 Infantile-onset pompe disease presents with cardiomyopathy and hypotonia, leading to premature death.
PubMedID- 21211680 Alglucosidase alpha (myozyme((r))) improves the cardiomyopathy and life expectancy of infants suffering from pompe disease and is under evaluation for the treatment of the juvenile and adult forms of the disease.

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