Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
Skladal
D
D
Universitätsklinik für Kinder- und Jugendheilkunde, Innsbruck, Austria. Daniela.Skladal@uibk.ac.at
Sass
J O
JO
Geiger
H
H
Geiger
R
R
Mann
C
C
Vreken
P
P
Wanders
R J
RJ
Trawöger
R
R
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D044942:Acyl-CoA Dehydrogenase, Long-Chain; D017809:Fatal Outcome; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000628:therapy; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D008297:Male; D010084:Oxidation-Reduction
D005227:Fatty Acids; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D044943:Fatty Acid Desaturases; D044942:Acyl-CoA Dehydrogenase, Long-Chain