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Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

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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, Rome, Italy.

作者： Filippo,Manti ^[1] ; Francesca,Nardecchia ^[1] ; Giuseppe,Banderali ^[2] ; Alberto,Burlina ^[3] ; Carla,Carducci ^[4] ; Claudia,Carducci ^[4] ; Maria Alice,Donati ^[5] ; Daniela,Gueraldi ^[3] ; Sabrina,Paci ^[2] ; Francesca,Pochiero ^[5] ; Francesco,Porta ^[6] ; Rita,Ortolano ^[7] ; Valentina,Rovelli ^[2] ; Maria Cristina,Schiaffino ^[8] ; Marco,Spada ^[6] ; Nenad,Blau ^[9] ; Vincenzo,Leuzzi ^[10]

作者单位： Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. ^[1] Department of Pediatrics, University of Milan, San Paolo Hospital, Santi Paolo e Carlo ASST, Milan, Italy. ^[2] Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy. ^[3] Department of Experimental Medicine, Sapienza University of Rome, Italy. ^[4] Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy. ^[5] Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Italy. ^[6] Department of Medical and Surgical Sciences, Pediatric Unit, Regional Centre for Expanded Newborn Screening, S. Orsola-Malpighi University Hospital, Bologna, Italy. ^[7] Pediatric Clinic and Endocrinology, IRCCS Istituto Giannina Gaslini, Genova, Italy. ^[8] Division of Metabolism, University Children's Hospital Zürich, Switzerland. ^[9] Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it. ^[10]

关键词 Biogenic amines Hyperphenylalaninemia Intellectual disability Movement disorders PTPS deficiency Psychiatric disorders