Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Autor: Cederbaum, Stephen D, Koo-McCoy, Samantha, Tein, Ingrid, Hsu, Betty Y.L, Ganguly, Arupa, Vilain, Eric, Dipple, Katrina, Cvitanovic-Sojat, Ljerka, Stanley, Charles
Zdroj: In Molecular Genetics and Metabolism 2002 77(3):195-201
Databáze: ScienceDirect