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Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Gragnaniello, Vincenza; Burlina, Alessandro P; Polo, Giulia; Giuliani, Antonella; Salviati, Leonardo; Duro, Giovanni; Cazzorla, Chiara; Rubert, Laura; Maines, Evelina; Germain, Dominique P; Burlina, Alberto B.
Affiliation
  • Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
  • Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy.
  • Polo G; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
  • Giuliani A; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
  • Salviati L; Clinical Genetics Unit, Department of Diagnostic Services, University Hospital, 35128 Padua, Italy.
  • Duro G; Institute for Biomedical Research and Innovation, National Research Council of Italy (IRIB CNR), 90146 Palermo, Italy.
  • Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
  • Rubert L; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
  • Maines E; Division of Pediatrics, S. Chiara General Hospital, 38122 Trento, Italy.
  • Germain DP; Division of Medical Genetics, University of Versailles and APHP Paris Saclay University, 92380 Garches, France.
  • Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, 35129 Padua, Italy.
Biomolecules ; 11(7)2021 06 27.
Article in En | MEDLINE | ID: mdl-34199132
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Fabry Disease / Alpha-Galactosidase / Dried Blood Spot Testing Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Europa Language: En Journal: Biomolecules Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neonatal Screening / Fabry Disease / Alpha-Galactosidase / Dried Blood Spot Testing Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Europa Language: En Journal: Biomolecules Year: 2021 Document type: Article Affiliation country: Italy Country of publication: Switzerland