TY  - GEN
AU  - Shibbani,K
AU  - Fahed,A C
AU  - Al-Shaar,L
AU  - Arabi,M
AU  - Nemer,G
AU  - Bitar,F
AU  - Majdalani,M
TI  - Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
SN  - 1399-0004
PY  - 2015///0330
KW  - Base Sequence
KW  - Cardiomyopathies
KW  - genetics
KW  - Cardiomyopathy, Dilated
KW  - Carnitine
KW  - deficiency
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA Primers
KW  - Echocardiography
KW  - Female
KW  - Humans
KW  - Hyperammonemia
KW  - Infant
KW  - Lebanon
KW  - Logistic Models
KW  - Male
KW  - Molecular Sequence Data
KW  - Muscular Diseases
KW  - Myocardium
KW  - pathology
KW  - Odds Ratio
KW  - Organic Cation Transport Proteins
KW  - Pedigree
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Sequence Analysis, DNA
KW  - Sequence Deletion
KW  - Solute Carrier Family 22 Member 5
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.12112
ER  -