Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

Authors: Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle

Source: Molecular and Cellular Pediatrics, Vol 12, Iss 1, Pp 1-8 (2025)

Subject Terms: Cerebral creatine deficiency, Diagnostic delay, Expressive speech delay, Global developmental delay, Cognitive impairment, Substitution therapy, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/2194-7791

Access URL: https://doaj.org/article/cfed738db3f347c2b97d0a185824c7eb

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