title: NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain.
authors.affiliation: Department of Paediatrics, University Hospital Amsterdam (AMC), The Netherlands.
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: E M
authors.initials: EM
authors.lastname: van Lie Peters
authors.forename: G D
authors.initials: GD
authors.lastname: Vos
authors.forename: H G
authors.initials: HG
authors.lastname: Loggers
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: N H
authors.initials: NH
authors.lastname: Herzberg
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: A
authors.initials: A
authors.lastname: van Wilsem
authors.forename: R
authors.initials: R
authors.lastname: ten Houten
mesh_terms: 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
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone)