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DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

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第一作者： Filippo,Manti

第一单位： Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Italy.

作者： Filippo,Manti ^[1] ; Giacomina,Ricciardi ^[1] ; Francesca,Nardecchia ^[1] ; Manuela,Tolve ^[2] ; Cristiana,Artiola ^[2] ; Maria Teresa,Carbone ^[3] ; Claudia,Carducci ^[4] ; Davide,Mei ^[5] ; Francesco,Porta ^[6] ; Rita,Ortolano ^[7] ; Egidio,Candela ^[7] ; Alberto,Burlina ^[8] ; Renzo,Guerrini ^[5] ; Francesco,Pisani ^[1] ; Antonio,Angeloni ^[4] ; Vincenzo,Leuzzi ^[1]

作者单位： Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Italy. ^[1] Clinical Pathology Unit, AOU Policlinico Umberto I, Rome, Italy. ^[2] UOS Metabolic and Rare Diseases, Santobono Hospital, Napoli, Italy. ^[3] Department of Experimental Medicine, Sapienza University of Rome, Italy. ^[4] Neuroscience and Medical Genetics Department, Meyer Children's Hospital IRCCS, Florence, Italy. ^[5] Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Turin, Italy. ^[6] Department of Medical and Surgical Sciences, Pediatric Unit, Regional Centre for Expanded Newborn Screening, S. Orsola-Malpighi University Hospital, Bologna, Italy; and. ^[7] Division of Inherited Metabolic Diseases, Department of Women's and Children's Health, Reference Centre Expanded Newborn Screening, University Hospital, Padua, Italy. ^[8]

DOI 10.1212/NXG.0000000000200335

PMID 41450729

发布时间 2025-12-26

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