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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Bonaventura, Eleonora; Alberti, Luisella; Lucchi, Simona; Cappelletti, Laura; Fazzone, Salvatore; Cattaneo, Elisa; Bellini, Matteo; Izzo, Giana; Parazzini, Cecilia; Bosetti, Alessandra; Di Profio, Elisabetta; Fiore, Giulia; Ferrario, Matilde; Mameli, Chiara; Sangiorgio, Arianna; Masnada, Silvia; Zuccotti, Gian Vincenzo; Veggiotti, Pierangelo; Spaccini, Luigina; Iascone, Maria; Verduci, Elvira; Cereda, Cristina; Tonduti, Davide.
  • Bonaventura E; Child Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.
  • Alberti L; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Lucchi S; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Cappelletti L; Newborn Screening and Inherited Metabolic Disease Unit, V. Buzzi Children Hospital, Milan, Italy.
  • Fazzone S; Newborn Screening and Inherited Metabolic Disease Unit, V. Buzzi Children Hospital, Milan, Italy.
  • Cattaneo E; Newborn Screening and Inherited Metabolic Disease Unit, V. Buzzi Children Hospital, Milan, Italy.
  • Bellini M; Newborn Screening and Inherited Metabolic Disease Unit, V. Buzzi Children Hospital, Milan, Italy.
  • Izzo G; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Parazzini C; Clinical Genetics Unit, V. Buzzi Children's Hospital, Milan, Italy.
  • Bosetti A; Molecular Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Di Profio E; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Fiore G; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.
  • Ferrario M; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Mameli C; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy.
  • Sangiorgio A; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Masnada S; Department of Paediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.
  • Zuccotti GV; Department of Paediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.
  • Veggiotti P; Department of Paediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.
  • Spaccini L; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Iascone M; Department of Paediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.
  • Verduci E; Center for Diagnosis and Treatment of Leukodystrophies and Genetic Leukoencephalopathies (COALA), V. Buzzi Children's Hospital, Milan, Italy.
  • Cereda C; Department of Paediatrics, V. Buzzi Children's Hospital, University of Milan, Milan, Italy.
  • Tonduti D; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
Front Neurol ; 13: 1072256, 2022.
Article en En | MEDLINE | ID: mdl-36698902

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research / Screening_studies Idioma: En Año: 2022 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Qualitative_research / Screening_studies Idioma: En Año: 2022 Tipo del documento: Article