Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
Journal
Human Mutation
Journal Volume
34
Journal Issue
4
Pages
655
Date Issued
2013
Author(s)
SDGs
Other Subjects
carnitine; amino acid blood level; asymptomatic disease; cardiomyopathy; carnitine deficiency; dried blood spot testing; faintness; gene mutation; genetic screening; genotype; genotype phenotype correlation; homozygosity; human; letter; newborn screening; phenotype; population genetics; priority journal; supplementation; Animals; Cardiomyopathies; Carnitine; Female; Humans; Hyperammonemia; Muscular Diseases; Organic Cation Transport Proteins
Type
letter