Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency

• 4 August 1999
• journal article
• research article
• Published by Springer Nature in Human Genetics
• Vol. 105  (1-2) , 157-161
• https://doi.org/10.1007/s004390051079

Abstract

Keywords

• CARNITINE
• CARNITINE DEFICIENCY
• PLASMA CARNITINE
• CARNITINE UPTAKE
• PRIMARY CARNITINE DEFICIENCY