Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect.
Grünewald
S
S
Department of Pediatrics, University Hospital of Düsseldorf, The Netherlands.
Bakkeren
J
J
Wanders
R A
RA
Wendel
U
U
D000641:Ammonia / Q000097:blood; D002311:Cardiomyopathy, Dilated / Q000209:etiology; D004579:Electron Transport; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007231:Infant, Newborn; D007659:Ketones / Q000652:urine; D019344:Lactic Acid / Q000097:blood / Q000652:urine; D008297:Male; D063991:Mitochondrial Trifunctional Protein; D009097:Multienzyme Complexes / Q000172:deficiency*; D009426:Netherlands; D014421:Turkey / Q000208:ethnology
D007659:Ketones; D009097:Multienzyme Complexes; D019344:Lactic Acid; D000641:Ammonia; D063991:Mitochondrial Trifunctional Protein