Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation.
Tang
N L
NL
Department of Chemical Pathology, Prince of Wales Hospital, Chinese University of Hong Kong.
Hui
J
J
Law
L K
LK
To
K F
KF
Ruiter
J P
JP
IJlst
L
L
Wanders
R J
RJ
Ho
C S
CS
Fok
T F
TF
Yuen
P M
PM
Hjelm
N M
NM
D000410:Alanine Transaminase / Q000097:blood; D002331:Carnitine / Q000097:blood*; D002333:Carnitine Acyltransferases / Q000097:blood*; D003998:Dicarboxylic Acids / Q000652:urine*; D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008297:Male; D010084:Oxidation-Reduction; D012202:Reye Syndrome / Q000097:blood* / Q000201:enzymology
D003998:Dicarboxylic Acids; D005227:Fatty Acids; D002333:Carnitine Acyltransferases; D000410:Alanine Transaminase; D002331:Carnitine