A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency.
Niezen-Koning
K E
KE
Beatrix Children's Hospital, University of Groningen, The Netherlands.
van Spronsen
F J
FJ
Ijlst
L
L
Wanders
R J
RJ
Brivet
M
M
Duran
M
M
Reijngoud
D J
DJ
Heymans
H S
HS
Smit
G P
GP
D002210:Caprylates / Q000032:analysis / Q000378:metabolism; D009202:Cardiomyopathies / Q000209:etiology*; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000032:analysis / Q000378:metabolism; D002478:Cells, Cultured; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D010084:Oxidation-Reduction; D010168:Palmitates / Q000032:analysis / Q000378:metabolism
D002210:Caprylates; D010168:Palmitates; D002333:Carnitine Acyltransferases; D002334:Carnitine O-Palmitoyltransferase