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Proc Natl Acad Sci 120(26):e2302531120 Kripps KA, Sremba L, Larson AA, Van Hove JL, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA (2022) Methionine synthase deficiency: variable clinical presentation and benefit of early diagnosis and treatment