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

Abstract Background Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (...

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Principais autores:	Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle
Formato:	Artigo
Idioma:	Inglês
Publicado em:	SpringerOpen 2025-01-01
Colecção:	Molecular and Cellular Pediatrics
Assuntos:	Cerebral creatine deficiency Diagnostic delay Expressive speech delay Global developmental delay Cognitive impairment Substitution therapy
Acesso em linha:	https://doi.org/10.1186/s40348-024-00188-4
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