Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.
University Hospital, Department of Pediatrics, Nijmegen, The Netherlands.
M
M
Huizing
U
U
Wendel
W
W
Ruitenbeek
V
V
Iacobazzi
L
L
IJlst
P
P
Veenhuizen
P
P
Savelkoul
L P
LP
van den Heuvel
J A
JA
Smeitink
R J
RJ
Wanders
J M
JM
Trijbels
F
F
Palmieri
D002331:Carnitine / Q000378:metabolism*; D002352:Carrier Proteins / Q000235:genetics*; D002478:Cells, Cultured; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D008297:Male
D002352:Carrier Proteins; D005227:Fatty Acids; D002331:Carnitine