TY  - GEN
AU  - Rose,Emily C
AU  - di San Filippo,Cristina Amat
AU  - Ndukwe Erlingsson,Uzochi C
AU  - Ardon,Orly
AU  - Pasquali,Marzia
AU  - Longo,Nicola
TI  - Genotype-phenotype correlation in primary carnitine deficiency
SN  - 1098-1004
PY  - 2012///0423
KW  - Adult
KW  - Animals
KW  - Asymptomatic Diseases
KW  - Biological Transport
KW  - CHO Cells
KW  - Cardiomyopathies
KW  - complications
KW  - Carnitine
KW  - deficiency
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Cricetinae
KW  - Cricetulus
KW  - DNA Mutational Analysis
KW  - Ergothioneine
KW  - metabolism
KW  - Exons
KW  - Female
KW  - Fibroblasts
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Hyperammonemia
KW  - Infant
KW  - Muscular Diseases
KW  - Mutagenesis, Site-Directed
KW  - Mutation, Missense
KW  - Organic Cation Transport Proteins
KW  - genetics
KW  - Phenotype
KW  - Solute Carrier Family 22 Member 5
KW  - Symporters
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/humu.21607
ER  -