Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

Keyphrases

• Plasma Membrane 100%
• Endocardial Fibroelastosis 100%
• Carnitine Deficiency 100%
• L-carnitine 66%
• Liver 33%
• Skeletal muscle 33%
• Heart muscle 33%
• Heterozygosity 33%
• Homozygosity 33%
• Inborn Errors 33%
• Index Patient 33%
• Normal Rate 33%
• Skin Fibroblasts 33%
• Cultured Skin 33%

Biochemistry, Genetics and Molecular Biology

• Cell Membrane 100%
• Fibroblast 50%
• Skeletal Muscle 50%
• Heterozygosity 50%
• Homozygosity 50%