Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort

17 Oct 2026 0 comments

CONCLUSION: Favorable neurodevelopmental outcomes in patients with GAMT deficiency treated before symptom onset underscore the importance of clinical awareness and timely diagnosis, and support the rationale for newborn screening. The two novel disease-causing variants expand the genetic spectrum of CCDS.

Source: PubMed - diagnostic errors AND neurology Published 15 Oct 2026 Imported 17 Oct 2026 Relevancy: 68%

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