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Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Stefania; Novelli, Agnese; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, Teresa; Angeloni, Antonio; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, Adele; Costa, Simonetta; Porzi, Alessia; Panella, Mara; Ticci, Chiara; Daniotti, Marta; Sacchini, Michele; Boschi, Ilaria; Dani, Carlo; Agostiniani, Rino; Bertini, Enrico; Lanzone, Antonio; Lamarca, Giancarlo; Genuardi, Maurizio; Pane, Marika; Donati, Maria Alice; Mercuri, Eugenio; Tiziano, Francesco Danilo.
Affiliation
  • Abiusi E; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Vaisfeld A; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Fiori S; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Novelli A; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Spartano S; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Faggiano MV; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Giovanniello T; Department of Experimental Medicine, Newborn Screening Center-Clinical Pathology Unit, Sapienza University of Rome, University Hospital Policlinico Umberto I, Roma, Italy.
  • Angeloni A; Department of Experimental Medicine, Newborn Screening Center-Clinical Pathology Unit, Sapienza University of Rome, University Hospital Policlinico Umberto I, Roma, Italy.
  • Vento G; Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Santoloci R; Neonatology Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.
  • Gigli F; Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli, Roma, Italy.
  • D'Amico A; Neonatology Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.
  • Costa S; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.
  • Porzi A; Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Panella M; Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Ticci C; Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli, Roma, Italy.
  • Daniotti M; Unit of hereditary metabolic and muscular disorders, Meyer Children's University Hospital, Firenze, Italy.
  • Sacchini M; Unit of hereditary metabolic and muscular disorders, Meyer Children's University Hospital, Firenze, Italy.
  • Boschi I; Unit of hereditary metabolic and muscular disorders, Meyer Children's University Hospital, Firenze, Italy.
  • Dani C; Forensic Medicine operating Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.
  • Agostiniani R; Division of Neonatology, Careggi University Hospital of Florence, Florence, Italy.
  • Bertini E; Department of Neurosciences, University of Florence, Florence, Italy.
  • Lanzone A; Department of Pediatrics and Neonatology, ASL Toscana Centro, Florence, Italy.
  • Lamarca G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy.
  • Genuardi M; Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli, Roma, Italy.
  • Pane M; Section of Obstetrics and Gynecology, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Donati MA; Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Meyer Children's University Hospital, Firenze, Italy.
  • Mercuri E; Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy.
  • Tiziano FD; Medical Genetics operating Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.
J Med Genet ; 60(7): 697-705, 2023 07.
Article in En | MEDLINE | ID: mdl-36414255
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Full text: 1 Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Neonatal Screening Type of study: Diagnostic_studies / Guideline Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Muscular Atrophy, Spinal / Neonatal Screening Type of study: Diagnostic_studies / Guideline Limits: Humans / Newborn Country/Region as subject: Europa Language: En Journal: J Med Genet Year: 2023 Type: Article Affiliation country: Italy