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Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation

Dionisio, Leonardo Raul; Shimizu, Makiko; Stupniki, Sofia; Oyama, Saki; Aztiria, Eugenio Manuel; Alda, Maximiliano; Yamazaki, Hiroshi; Spitzmaul, Guillermo Federico (Elsevier, 2020-05-05)

Flavin-containing monooxygenase 3 (FMO3) is a polymorphic drug metabolizing enzyme associated with the genetic disorder trimethylaminuria. We phenotyped a white Argentinian 11-year-old girl by medical sensory evaluation. ...