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Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.

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Title: Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.
Authors: Alessandrì MG; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy., Bosetti C; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, Pisa, 56126, Italy., Scaffei E; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy., Casalini C; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy., Balestrini S; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, Firenze, 50139, Italy.; NEUROFARBA Department, University of Florence, Viale Pieraccini 6, Firenze, 50139, Italy., Tramacere L; Department of Medicine, Unit of Neurology of Florence, 'San Giovanni di Dio' Hospital, Via di Torregalli 3, Firenze, 50143, Italy., Ambrosi P; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy., Tosetti M; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy., Guerrini R; Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Viale Pieraccini 24, Firenze, 50139, Italy.; NEUROFARBA Department, University of Florence, Viale Pieraccini 6, Firenze, 50139, Italy., Battini R; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy. roberta.battini@fsm.unipi.it.; Department of Clinical and Experimental Medicine, University of Pisa, Via Roma 55, Pisa, 56126, Italy. roberta.battini@fsm.unipi.it.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Mar 03; Vol. 21 (1). Date of Electronic Publication: 2026 Mar 03.
Publication Type: Journal Article; Observational Study
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1750-1172
DOI:10.1186/s13023-026-04289-3