Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

Genotype-phenotype correlation in primary carnitine deficiency

(2011) Emily C. Rose et al.   HUMAN MUTATION

Glycosylation of the OCTN2 carnitine transporter: Study of natural mutations identified in patients with primary carnitine deficiency

(2010) Cristina Amat di San Filippo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

(2010) Ayman W El-Hattab et al.   GENETICS IN MEDICINE

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

(2010) Fang-Yuan Li et al.   HUMAN MUTATION

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

(2009) Ni-Chung Lee et al.   MOLECULAR GENETICS AND METABOLISM

Cardiomyopathy and carnitine deficiency

(2008) Cristina Amat di San Filippo et al.   MOLECULAR GENETICS AND METABOLISM