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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

Authors

  • Emanuela Abiusi Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Alessandro Vaisfeld Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Stefania Fiori Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Agnese Novelli Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Serena Spartano Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Maria Vittoria Faggiano Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Teresa Giovanniello Department of Experimental Medicine, Newborn Screening Center-Clinical Pathology Unit, Sapienza University of Rome, University Hospital Policlinico Umberto I, Roma, Italy PubMed articlesGoogle scholar articles
  • Antonio Angeloni Department of Experimental Medicine, Newborn Screening Center-Clinical Pathology Unit, Sapienza University of Rome, University Hospital Policlinico Umberto I, Roma, Italy PubMed articlesGoogle scholar articles
  • Giovanni Vento Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, ItalyNeonatology Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli", Roma, Italy PubMed articlesGoogle scholar articles
  • Roberta Santoloci Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli, Roma, Italy PubMed articlesGoogle scholar articles
  • Francesca Gigli Neonatology Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli", Roma, Italy PubMed articlesGoogle scholar articles
  • Adele D'Amico Department of Molecular Medicine, Bambino Gesù Pediatric Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Simonetta Costa Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Alessia Porzi Section of Pediatrics, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Mara Panella Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli, Roma, Italy PubMed articlesGoogle scholar articles
  • Chiara Ticci Unit of hereditary metabolic and muscular disorders, Meyer Children’s University Hospital, Firenze, Italy PubMed articlesGoogle scholar articles
  • Marta Daniotti Unit of hereditary metabolic and muscular disorders, Meyer Children’s University Hospital, Firenze, Italy PubMed articlesGoogle scholar articles
  • Michele Sacchini Unit of hereditary metabolic and muscular disorders, Meyer Children’s University Hospital, Firenze, Italy PubMed articlesGoogle scholar articles
  • Ilaria Boschi Forensic Medicine operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy PubMed articlesGoogle scholar articles
  • Enrico Bertini Department of Molecular Medicine, Bambino Gesù Pediatric Hospital, Roma, Italy PubMed articlesGoogle scholar articles
  • Antonio Lanzone Obstetrics and Gynecology operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli, Roma, ItalySection of Obstetrics and Gynecology, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, Italy PubMed articlesGoogle scholar articles
  • Giancarlo Lamarca Newborn Screening, Clinical Chemistry and Pharmacology Laboratory, Meyer Children's University Hospital, Firenze, Italy PubMed articlesGoogle scholar articles
  • Maurizio Genuardi Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, ItalyMedical Genetics operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy PubMed articlesGoogle scholar articles
  • Marika Pane Section of Child Psychiatry, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, ItalyChild Psychiatry operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy PubMed articlesGoogle scholar articles
  • Maria Alice Donati Unit of hereditary metabolic and muscular disorders, Meyer Children’s University Hospital, Firenze, Italy PubMed articlesGoogle scholar articles
  • Eugenio Mercuri Section of Child Psychiatry, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, ItalyChild Psychiatry operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy PubMed articlesGoogle scholar articles
  • Francesco Danilo Tiziano Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University of Sacred Heart, Roma, ItalyMedical Genetics operating Unit, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy PubMed articlesGoogle scholar articles
  • on behalf of the Italian SMA-NBS group
    Google scholar articles
  1. Correspondence to Professor Francesco Danilo Tiziano, Section of Genomic Medicine, Department of Life Sciences and Public Health, Universita Cattolica del Sacro Cuore Facolta di Medicina e Chirurgia, Roma 1 – 00168, Italy; francescodanilo.tiziano{at}unicatt.it
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Citation

Abiusi E, Vaisfeld A, Fiori S on behalf of the Italian SMA-NBS group, et al
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis

Publication history

  • Received August 12, 2022
  • Accepted November 6, 2022
  • First published November 22, 2022.

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