A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

• Rafael Tesorero ,

  Contributed equally to this work with: Rafael Tesorero, Joachim Janda

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: Rafael.Tesorero@med.uni-heidelberg.de (RT); Joachim.Janda@med.uni-heidelberg.de (JJ)

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

  https://orcid.org/0000-0002-1636-0954

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• Joachim Janda ,

  Contributed equally to this work with: Rafael Tesorero, Joachim Janda

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

  * E-mail: Rafael.Tesorero@med.uni-heidelberg.de (RT); Joachim.Janda@med.uni-heidelberg.de (JJ)

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

  https://orcid.org/0000-0002-6293-0831

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• Friederike Hörster,

  Roles Supervision, Validation, Visualization, Writing – review & editing

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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• Patrik Feyh,

  Roles Software

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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• Ulrike Mütze,

  Roles Resources, Visualization, Writing – review & editing

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

  https://orcid.org/0000-0002-4251-7257

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• Jana Hauke,

  Roles Investigation

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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• Kathrin Schwarz,

  Roles Investigation

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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• Joachim B. Kunz,

  Roles Resources, Writing – review & editing

  Affiliation Department of Pediatric Oncology, Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany

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• Georg F. Hoffmann,

  Roles Funding acquisition, Supervision

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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• Jürgen G. Okun

  Roles Project administration, Supervision, Visualization, Writing – review & editing

  Affiliation Department of General Pediatrics, Division for Neuropediatrics and Metabolic Medicine, Center for Child and Adolescent Medicine and Dietmar Hopp Metabolic Center, University Hospital Heidelberg, Heidelberg, Germany

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