Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort.

Mehmet Akif Kilic; Volkan Karaman; Pinar Gencpinar; Ayfer Sakarya Gunes; Fatma Mujgan Sonmez; Halil Ibrahim Aydin; Olgay Bildik; Safiye Gunes Sager; Tugce Aksu Uzunhan; Cagatay Gunay; Ozlem Ates Yaman; Hakan Ercelebi; Gunce Basarir; Anil Gok; Melike Ersoy; Deniz Sunnetci Akkoyunlu; Hamza Polat; Ayberk Turkyilmaz; Betul Turan; Bulent Uyanik; Muhtesem Agildere; Hande Kaymakcalan Celebiler; Muhammed Mehtar; Nihal Olgac Dundar; Edibe Pembegul Yildiz; Bulent Kara; Hulya Maras Genc

doi:10.1007/s00431-026-07519-9

SCHEDA SCIENTIFICA2026Studio osservazionale

Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort.

Mehmet Akif Kilic, Volkan Karaman, Pinar Gencpinar, Ayfer Sakarya Gunes, Fatma Mujgan Sonmez, Halil Ibrahim Aydin, Olgay Bildik, Safiye Gunes Sager, Tugce Aksu Uzunhan, Cagatay Gunay, Ozlem Ates Yaman, Hakan Ercelebi, Gunce Basarir, Anil Gok, Melike Ersoy, Deniz Sunnetci Akkoyunlu, Hamza Polat, Ayberk Turkyilmaz, Betul Turan, Bulent Uyanik, Muhtesem Agildere, Hande Kaymakcalan Celebiler, Muhammed Mehtar, Nihal Olgac Dundar, Edibe Pembegul Yildiz, Bulent Kara, Hulya Maras Genc

European journal of pediatrics · 2026

Psicologia clinica Psicologia dello sviluppo

Abstract e pubblicazione originale

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Parole chiave

AdolescentChildChild, PreschoolFemaleHumansInfantMaleAmidinotransferasesAmino Acid Metabolism, Inborn ErrorsCreatineDevelopmental DisabilitiesGuanidinoacetate N-MethyltransferaseIntellectual DisabilityLanguage Development DisordersMembrane Transport ProteinsMovement DisordersPlasma Membrane Neurotransmitter Transport ProteinsRetrospective StudiesX-Linked Intellectual DisabilitySpeech DisordersBrain Diseases, Metabolic, InbornAGAT deficiencyCRTR deficiencyCerebral creatine deficiency syndromesGAMT deficiencyGenetic spectrum

Come citare questo studio

Mehmet Akif Kilic, Volkan Karaman, Pinar Gencpinar, Ayfer Sakarya Gunes, Fatma Mujgan Sonmez, Halil Ibrahim Aydin, Olgay Bildik, Safiye Gunes Sager, Tugce Aksu Uzunhan, Cagatay Gunay, Ozlem Ates Yaman, Hakan Ercelebi, Gunce Basarir, Anil Gok, Melike Ersoy, Deniz Sunnetci Akkoyunlu, Hamza Polat, Ayberk Turkyilmaz, Betul Turan, Bulent Uyanik, Muhtesem Agildere, Hande Kaymakcalan Celebiler, Muhammed Mehtar, Nihal Olgac Dundar, Edibe Pembegul Yildiz, Bulent Kara, Hulya Maras Genc. (2026). Diagnostic timing in cerebral creatine deficiency syndromes: neurodevelopmental and genetic characterization of a multicenter cohort.. European journal of pediatrics. DOI: 10.1007/s00431-026-07519-9

Consulta la pubblicazione originale ↗