NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.
Wijburg
F A
FA
Department of Paediatrics, University Hospital Amsterdam (AMC), The Netherlands.
Wanders
R J
RJ
van Lie Peters
E M
EM
Vos
G D
GD
Loggers
H G
HG
Bolhuis
P A
PA
Herzberg
N H
NH
Ruitenbeek
W
W
van Wilsem
A
A
ten Houten
R
R
D000140:Acidosis, Lactic; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D009132:Muscles / Q000201:enzymology / Q000378:metabolism; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000172:deficiency*; D010084:Oxidation-Reduction
D016660:NAD(P)H Dehydrogenase (Quinone)