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Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Lobitz, Stephan; Frömmel, Claudia; Brose, Annemarie; Blankenstein, Oliver; Turner, Charles; Dalton, R Neil; Daniel, Yvonne; Klein, Jeannette.
Afiliação
  • Lobitz S; Department of Pediatric Hematology and Oncology, Gemeinschaftsklinikum Mittelrhein, Koblenzer Strasse 115-155, 56073, Koblenz, Germany. Stephan.Lobitz@gk.de.
  • Frömmel C; Department of Laboratory Medicine, Alexianer St. Hedwig Krankenhaus, Berlin, Germany.
  • Brose A; Newborn Screening Laboratory, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Blankenstein O; Newborn Screening Laboratory, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Turner C; SpOtOn Clinical Diagnostics, Evelina London Children's Hospital, London, UK.
  • Dalton RN; SpOtOn Clinical Diagnostics, Evelina London Children's Hospital, London, UK.
  • Daniel Y; SpOtOn Clinical Diagnostics, Evelina London Children's Hospital, London, UK.
  • Klein J; Newborn Screening Laboratory, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Ann Hematol ; 101(8): 1859-1860, 2022 08.
Article em En | MEDLINE | ID: mdl-35293609

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tirosinemias / Deficiência de Biotinidase / Anemia Falciforme Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Ann Hematol Assunto da revista: HEMATOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tirosinemias / Deficiência de Biotinidase / Anemia Falciforme Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Ann Hematol Assunto da revista: HEMATOLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha