Familial NADH: Q1 oxidoreductase (complex I) deficiency: variable expression and possible treatment.
Wijburg
F A
FA
Department of Pediatrics, University Hospital of Amsterdam, The Netherlands.
Barth
P G
PG
Ruitenbeek
W
W
Wanders
R J
RJ
Vos
G D
GD
Ploos van Amstel
S L
SL
Schutgens
R B
RB
D015415:Biomarkers / Q000097:blood; D002675:Child, Preschool; D003241:Consanguinity; D006801:Humans; D007773:Lactates / Q000097:blood; D008099:Liver / Q000201:enzymology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D009132:Muscles / Q000201:enzymology; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency*; D014812:Vitamin K / Q000627:therapeutic use
D015415:Biomarkers; D007773:Lactates; D014812:Vitamin K; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases