Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.
Costa
C
C
AP-HP Hospital Bicêtre Laboratory of Biochemistry, Le Kremlin Bicetre, France.
Costa
J M
JM
Nuoffer
J M
JM
Slama
A
A
Boutron
A
A
Saudubray
J M
JM
Legrand
A
A
Brivet
M
M
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
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; D003596:Cytosine; C120109:SLC25A20 protein, human; D002333:Carnitine Acyltransferases; D013941:Thymine