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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo, Margherita; Malvagia, Sabrina; Boenzi, Sara; Carducci, Carla; Dionisi-Vici, Carlo; Teofoli, Francesca; Burlina, Alberto; Angeloni, Antonio; Aronica, Tommaso; Bordugo, Andrea; Bucci, Ines; Camilot, Marta; Carbone, Maria Teresa; Cardinali, Roberta; Carducci, Claudia; Cassanello, Michela; Castana, Cinzia; Cazzorla, Chiara; Ciatti, Renzo; Ferrari, Simona; Frisso, Giulia; Funghini, Silvia; Furlan, Francesca; Gasperini, Serena; Gragnaniello, Vincenza; Guzzetti, Chiara; La Marca, Giancarlo; La Spina, Luisa; Lorè, Tania; Meli, Concetta; Messina, MariaAnna; Morrone, Amelia; Nardecchia, Francesca; Ortolano, Rita; Parenti, Giancarlo; Pavanello, Enza; Pieragostino, Damiana; Pillai, Sara; Porta, Francesco; Righetti, Francesca; Rossi, Claudia; Rovelli, Valentina; Salina, Alessandro; Santoro, Laura; Sauro, Pina; Schiaffino, Maria Cristina; Simonetti, Simonetta; Vincenzi, Monica; Tarsi, Elisabetta; Uccheddu, Anna Paola.
Afiliação
  • Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Malvagia S; CEINGE Biotecnologie Avanzate Scarl, 80131 Naples, Italy.
  • Boenzi S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
  • Carducci C; Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy.
  • Dionisi-Vici C; Department of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.
  • Teofoli F; Division of Metabolic Disease, Bambino Gesù Childrens Hospital IRCCS, 00165 Rome, Italy.
  • Burlina A; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.
  • Angeloni A; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.
  • Aronica T; Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy.
  • Bordugo A; Ospedale Civico ARNAS PA, 90127 Palermo, Italy.
  • Bucci I; Inherited Metabolic Disease Unit, Pediatric Department, AOUI, 37126 Verona, Italy.
  • Camilot M; Center for Advanced Studies and Technology (CAST) and Department of Medicine and Aging Science, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
  • Carbone MT; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.
  • Cardinali R; UOS Malattie Metaboliche e Rare, AORN Santobono, 80131 Naples, Italy.
  • Carducci C; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
  • Cassanello M; Dipartimento di Medicina Sperimentale, Sapienza University of Rome, 00161 Rome, Italy.
  • Castana C; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Cazzorla C; Ospedale Civico ARNAS PA, 90127 Palermo, Italy.
  • Ciatti R; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.
  • Ferrari S; Centro Screening Neonatale Regione Marche, U.O.C. Neuropsichiatria Infantile-A.O. Ospedali Riuniti Marche Nord, 61032 Fano, Italy.
  • Frisso G; UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Funghini S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Furlan F; CEINGE Biotecnologie Avanzate Scarl, 80131 Naples, Italy.
  • Gasperini S; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
  • Gragnaniello V; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Alta Intensità di Cura, 20122 Milan, Italy.
  • Guzzetti C; Pediatric Department, San Gerardo Hospital, 20900 Monza, Italy.
  • La Marca G; Division of Inherited Metabolic Diseases, University Hospital of Padova, 35128 Padova, Italy.
  • La Spina L; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", 09121 Cagliari, Italy.
  • Lorè T; Newborn Screening, Clinical Chemistry and Pharmacology Lab, Meyer Children's University Hospital, 50139 Florence, Italy.
  • Meli C; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.
  • Messina M; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
  • Morrone A; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.
  • Nardecchia F; Laboratorio Screening Neonatale-Clinica Pediatrica AOU Policlinico "G. Rodolico-San Marco", 95123 Catania, Italy.
  • Ortolano R; Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children's University Hospital, 50139 Florence, Italy.
  • Parenti G; Dipartimento di Neuroscienze Umane-Unità di Neuropsichiatria Infantile Università Roma Sapienza, 00161 Rome, Italy.
  • Pavanello E; UO Pediatria, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Pieragostino D; Dipartimento di Scienze Mediche Traslazionali Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
  • Pillai S; SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.
  • Porta F; Center for Advanced Studies and Technology (CAST) and Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
  • Righetti F; SSD Endocrinologia Pediatrica e Centro Screening Neonatale, Ospedale Pediatrico Microcitemico "A. Cao", 09121 Cagliari, Italy.
  • Rossi C; SC Pediatria-Malattie Metaboliche, Ospedale Infantile Regina Margherita AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.
  • Rovelli V; Centro Laboratoristico Regionale di Riferimento Screening Neonatale e Malattie Endocrino-Metaboliche UO Pediatria IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Salina A; Center for Advanced Studies and Technology (CAST) and Department of Psychological, Health and Territory Sciences, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
  • Santoro L; Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, 20142 Milano, Italy.
  • Sauro P; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Schiaffino MC; Ospedale Civico ARNAS PA, 90127 Palermo, Italy.
  • Simonetti S; SS Screening Prenatale e Neonatale, SC Biochimica Clinica, AOU Città della Salute e della Scienza di Torino, 10126 Torino, Italy.
  • Vincenzi M; Pediatric Clinic, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
  • Tarsi E; U.O.S.D. Screening Neonatale e Patologia Clinica AOU Policlinico Consorziale Ospedale Pediatrico Giovanni XXII Bari, 70121 Bari, Italy.
  • Uccheddu AP; Department of Mother and Child, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, 37126 Verona, Italy.
Int J Neonatal Screen ; 8(3)2022 Aug 09.
Article em En | MEDLINE | ID: mdl-35997437
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: Int J Neonatal Screen Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália