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Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Before LCMS analysis, the dried extracts were reconstituted in 100 L of ACN:H 2 O (1:1, v/v), sonicated for 10 min, and centrifuged for 15 min at 16,200 g and 4 C to remove insoluble debris

These observations are confirmed by an observation of delayed decreased in GPX activity following a MeHg-induced reduction of thiol levels [195]

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