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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

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Fig. 1

References

  1. Lobitz S, Klein J, Brose A, Blankenstein O, Frommel C (2019) Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns. Ann Hematol 98(1):47–53. https://doi.org/10.1007/s00277-018-3477-4

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Acknowledgements

We are deeply indebted to all patients and their families who took part in this project. We are very grateful to “Kindness for Kids – Stiftung für Kinder mit Seltenen Erkrankungen” and “Eva Luise und Horst Köhler Stiftung” for their generous financial support. We thank SpOtOn Clinical Diagnostics for providing the reagents evaluated in this study free of charge.

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Authors and Affiliations

  1. Department of Pediatric Hematology and Oncology, Gemeinschaftsklinikum Mittelrhein, Koblenzer Strasse 115-155, 56073, Koblenz, Germany

    Stephan Lobitz

  2. Department of Laboratory Medicine, Alexianer St. Hedwig Krankenhaus, Berlin, Germany

    Claudia Frömmel

  3. Newborn Screening Laboratory, Charité – Universitätsmedizin Berlin, Berlin, Germany

    Annemarie Brose, Oliver Blankenstein & Jeannette Klein

  4. SpOtOn Clinical Diagnostics, Evelina London Children’s Hospital, London, UK

    Charles Turner, R. Neil Dalton & Yvonne Daniel

Authors
  1. Stephan Lobitz
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  2. Claudia Frömmel
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  3. Annemarie Brose
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  4. Oliver Blankenstein
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  5. Charles Turner
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  6. R. Neil Dalton
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  7. Yvonne Daniel
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  8. Jeannette Klein
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Corresponding author

Correspondence to Stephan Lobitz.

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Ethics and consent

The ethical review committee of the Charité university hospital in Berlin approved the present study under the reference number EA2/126/17. All custodians gave written consent for the inclusion of their child into the study.

Competing interests

CT and ND are the directors of SpOtOn Clinical Diagnostics Limited. YD is named on the patent for the method referred to in the manuscript but has received no financial benefit. The other authors declare no conflict of interest.

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Lobitz, S., Frömmel, C., Brose, A. et al. Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol. Ann Hematol 101, 1859–1860 (2022). https://doi.org/10.1007/s00277-022-04811-0

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  • DOI: https://doi.org/10.1007/s00277-022-04811-0

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