title: Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
authors.affiliation: AP-HP Hospital Bicêtre Laboratory of Biochemistry, Le Kremlin Bicetre, France.
authors.forename: C
authors.initials: C
authors.lastname: Costa
authors.forename: J M
authors.initials: JM
authors.lastname: Costa
authors.forename: J M
authors.initials: JM
authors.lastname: Nuoffer
authors.forename: A
authors.initials: A
authors.lastname: Slama
authors.forename: A
authors.initials: A
authors.lastname: Boutron
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: A
authors.initials: A
authors.lastname: Legrand
authors.forename: M
authors.initials: M
authors.lastname: Brivet
mesh_terms: D002333:Carnitine Acyltransferases; D002352:Carrier Proteins / Q000235:genetics*; D003596:Cytosine; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D026901:Membrane Transport Proteins; D013941:Thymine
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D003596:Cytosine; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases; D013941:Thymine