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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
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  Data: Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.
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  Data: <searchLink fieldCode="AU" term="%22Alessandrì+MG%22">Alessandrì MG</searchLink>; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.<br /><searchLink fieldCode="AU" term="%22Bosetti+C%22">Bosetti C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scaffei+E%22">Scaffei E</searchLink>; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.<br /><searchLink fieldCode="AU" term="%22Casalini+C%22">Casalini C</searchLink>; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.<br /><searchLink fieldCode="AU" term="%22Balestrini+S%22">Balestrini S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tramacere+L%22">Tramacere L</searchLink>; Department of Medicine, Unit of Neurology of Florence, 'San Giovanni di Dio' Hospital, Via di Torregalli 3, Firenze, 50143, Italy.<br /><searchLink fieldCode="AU" term="%22Ambrosi+P%22">Ambrosi P</searchLink>; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.<br /><searchLink fieldCode="AU" term="%22Tosetti+M%22">Tosetti M</searchLink>; IRCCS Stella Maris Foundation, viale del Tirreno 331, Calambrone, Pisa, 56128, Italy.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Mar 03; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Mar 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13023-026-04289-3
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              Text: 2026 Mar 03
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