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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.
Afiliación
  • 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 en En | MEDLINE | ID: mdl-35293609
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Tirosinemias / Deficiencia de Biotinidasa / Anemia de Células Falciformes Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Ann Hematol Asunto de la revista: HEMATOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Tirosinemias / Deficiencia de Biotinidasa / Anemia de Células Falciformes Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Ann Hematol Asunto de la revista: HEMATOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Alemania