Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter. [electronic resource]
Producer: 19960809Description: 243-6 p. digitalISSN:- 0160-9289
- Cardiomyopathy, Dilated -- etiology
- Carnitine -- deficiency
- Cell Membrane -- metabolism
- Endocardial Fibroelastosis -- etiology
- Female
- Fibroblasts -- metabolism
- Genetic Carrier Screening
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Ion Channels -- genetics
- Ion Transport
- Liver -- metabolism
- Metabolism, Inborn Errors -- complications
- Muscle, Skeletal -- metabolism
- Myocardium -- metabolism
- Skin -- metabolism
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Publication Type: Case Reports; Clinical Conference; Journal Article; Research Support, U.S. Gov't, P.H.S.
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