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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-34199132
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doença de Fabry / Alfa-Galactosidase / Teste em Amostras de Sangue Seco Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Biomolecules Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Triagem Neonatal / Doença de Fabry / Alfa-Galactosidase / Teste em Amostras de Sangue Seco Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Female / Humans / Male / Newborn País/Região como assunto: Europa Idioma: En Revista: Biomolecules Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália