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For example, both mutations (Nashabat et al., As has been summarized previously, early studies in ASD demonstrated central deficiencies in BH4 and both controlled and open-label trials demonstrate a therapeutic effect of sapropterin in children with ASD (Frye et al., Some of the first cases of cerebral folate deficiency (CFD) were identified to have features of ASD (Ramaekers et al., 1B demonstrates the target of HDFA in the context of CFD