Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease glycogen storage disease ii
Comorbidity C0878544|cardiomyopathy
Sentences 6
PubMedID- 22572506 We are presenting two cases of infantile form of pompe's disease with secondary hypertrophic cardiomyopathy (cmp).
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.
PubMedID- 25213570 Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
PubMedID- 21940687 Infantile-onset pompe disease presents with cardiomyopathy and hypotonia, leading to premature death.
PubMedID- 22736456 A recent study demonstrated that a high-protein diet dramatically decreased the left ventricular mass index and serum creatine kinase levels and reversed cardiomyopathy in a patient with gsd iiia (dagli et al., 2009), indicating that this treatment is a beneficial therapeutic choice for gsd iiia patients with cardiomyopathy.
PubMedID- 21857385 Successful treatment of severe cardiomyopathy in glycogen storage disease type iii with d,l-3-hydroxybutyrate, ketogenic and high-protein diet.

Page: 1