Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the
Maria Grazia Alessandrì1, Chiara Bosetti1,2, Elena Scaffei1
1IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.
Orphanet Journal of Rare Diseases
|March 3, 2026
Abstract
No abstract available in PubMed .
Keywords:
Arginine treatmentCerebral creatine deficiency disordersCreatine transporter deficiency (CTD)Magnetic resonance spectroscopySLC6A8 geneX-linked intellectual disabilitiesMore Related Videos
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