PedAM
Pediatric Disease Annotations & Medicines
| Disease | cardiomyopathy |
| Phenotype | C0027947|neutropenia |
| Sentences | 2 |
| PubMedID- 20882351 | The 3-mga-uria type ii or barth syndrome is an x-linked recessive cardiomyopathy with (cyclic) neutropenia, skeletal myopathy, and mitochondrial respiratory chain dysfunction first described in a large dutch family some 30 years ago (barth et al. |
| PubMedID- 24116962 | The first disorder linked to abnormal mitochondrial lipid metabolism was barth syndrome of dilated cardiomyopathy associated with cyclical neutropenia, growth retardation and 3-methylglutaconic aciduria (clarke et al., 2013). |
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