Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort
Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort / Alessandrì, Maria Grazia; Bosetti, Chiara; Scaffei, Elena; Casalini, Claudia; Balestrini, Simona; Tramacere, Luciana; Ambrosi, Pierfrancesco; Tosetti, Michela; Guerrini, Renzo; Battini, Roberta. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - ELETTRONICO. - (2026), pp. 0-0. [10.1186/s13023-026-04289-3]
Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort
Scaffei, Elena;Balestrini, Simona;Tramacere, Luciana;Ambrosi, Pierfrancesco;Tosetti, Michela;Guerrini, Renzo;Battini, Roberta
2026
Abstract
Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort
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